Jump To Section:

Identification Taxonomy Ontology Physical properties Spectra Biological properties Concentrations Links References enzymes (7)transporters (1) Show 8 proteins XML

enzymes (7)transporters (1) Show 8 proteins

Record Information

Version

5.0

Status

Detected and Quantified

Creation Date

2005-11-16 15:48:42 UTC

Update Date

2025-05-29 18:09:59 UTC

HMDB ID

HMDB0000687

Secondary Accession Numbers

HMDB00687

Metabolite Identification

Common Name

Leucine

Description

Leucine (Leu) or L-leucine is an alpha-amino acid. These are amino acids in which the amino group is attached to the carbon atom immediately adjacent to the carboxylate group (alpha carbon). Amino acids are organic compounds that contain amino (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid. L-leucine is one of 20 proteinogenic amino acids, i.e., the amino acids used in the biosynthesis of proteins. Leucine is found in all organisms ranging from bacteria to plants to animals. It is classified as a non-polar, uncharged (at physiological pH) aliphatic amino acid. Leucine is essential in humans, meaning the body cannot synthesize it, and it must be obtained from the diet. Human dietary sources are foods that contain protein, such as meats, dairy products, soy products, beans and legumes. L-Leucine is a branched chain amino acid (BCAA). The BCAAs consist of leucine, valine and isoleucine (and occasionally threonine). BCAAs are essential amino acids whose carbon structure is marked by a branch point at the beta-carbon position. BCAAs are critical to human life and are particularly involved in stress, energy and muscle metabolism. BCAA supplementation as therapy, both oral and intravenous, in human health and disease holds great promise. BCAAs have different metabolic routes, with valine going solely to carbohydrates (glucogenic), leucine solely to fats (ketogenic) and isoleucine being both a glucogenic and a ketogenic amino acid. The different metabolism accounts for different requirements for these essential amino acids in humans: 12 mg/kg, 14 mg/kg and 16 mg/kg of valine, leucine and isoleucine respectively. The primary metabolic end products of leucine metabolism are acetyl-CoA and acetoacetate; consequently, it is one of the two exclusively ketogenic amino acids, with lysine being the other. Leucine is the most important ketogenic amino acid in humans. The vast majority of l-leucine metabolism is initially catalyzed by the branched-chain amino acid aminotransferase enzyme, producing alpha-ketoisocaproate (alpha-KIC). alpha-KIC is metabolized by the mitochondrial enzyme branched-chain alpha-ketoacid dehydrogenase, which converts it to isovaleryl-CoA. Isovaleryl-CoA is subsequently metabolized by the enzyme isovaleryl-CoA dehydrogenase and converted to beta-methylcrotonyl-CoA (MC-CoA), which is used in the synthesis of acetyl-CoA and other compounds. During biotin deficiency, HMB can be synthesized from MC-CoA via enoyl-CoA hydratase and an unknown thioesterase enzyme, which convert MC-CoA into HMB-CoA and HMB-CoA into HMB respectively. Leucine has the capacity to directly stimulate myofibrillar muscle protein synthesis (PMID 15051860 ). This effect of leucine arises results from its role as an activator of the mechanistic target of rapamycin (mTOR) (PMID 23551944 ) a serine-threonine protein kinase that regulates protein biosynthesis and cell growth. The activation of mTOR by leucine is mediated through Rag GTPases. Leucine, like other BCAAs, is associated with insulin resistance. In particular, higher levels of leucine are observed in the blood of diabetic mice, rats, and humans (PMID 25287287 ). BCAAs such as leucine have different deficiency symptoms. Valine deficiency is marked by neurological defects in the brain, while isoleucine deficiency is marked by muscle tremors. Persistently low leucine levels can result in decreased appetite, poor feeding, lethargy, poor growth, weight loss, skin rashes, hair loss, and desquamation. Many types of inborn errors of BCAA metabolism exist and these are marked by various abnormalities. The most common form is maple syrup urine disease, marked by a characteristic urinary odor. Other abnormalities are associated with a wide range of symptoms, such as mental retardation, ataxia, hypoglycemia, spinal muscle atrophy, rash, vomiting and excessive muscle movement. Most forms of BCAA metabolism errors are corrected by dietary restriction of BCAAs and at least one form is correctable by supplementation with 10 mg of biotin daily. - BCAAs are useful because they are metabolized primarily by muscle. Stress states - e.g surgery, trauma, cirrhosis, infections, fever and starvation--require proportionately more BCAAs than other amino acids and probably proportionately more leucine than either valine or isoleucine. BCAAs and other amino acids are frequently fed intravenously (TPN) to malnourished surgical patients and in some cases of severe trauma. BCAAs, particularly leucine, stimulate protein synthesis, increase reutilization of amino acids in many organs and reduce protein breakdown. Furthermore, leucine can be an important source of calories, and is superior as fuel to the ubiquitous intravenous glucose (dextrose). - Leucine also stimulates insulin release, which in turn stimulates protein synthesis and inhibits protein breakdown. These effects are particularly useful in athletic training. Huntington's chorea and anorexic disorders both are characterized by low serum BCAAs. These diseases, as well as forms of Parkinson's, may respond to BCAA therapy.

Structure

MOL 3D MOL SDF 3D SDF PDB 3D PDB SMILES InChI

View in JSmol View NMR Assignments View Stereo Labels

Synonyms

Value	Source
(2S)-2-Amino-4-methylpentanoic acid	ChEBI
(2S)-alpha-2-Amino-4-methylvaleric acid	ChEBI
(2S)-alpha-Leucine	ChEBI
(S)-(+)-Leucine	ChEBI
(S)-Leucine	ChEBI
2-Amino-4-methylvaleric acid	ChEBI
L	ChEBI
L-Leucin	ChEBI
L-Leuzin	ChEBI
Leu	ChEBI
LEUCINE	ChEBI
(2S)-2-Amino-4-methylpentanoate	Generator
(2S)-a-2-Amino-4-methylvalerate	Generator
(2S)-a-2-Amino-4-methylvaleric acid	Generator
(2S)-alpha-2-Amino-4-methylvalerate	Generator
(2S)-Α-2-amino-4-methylvalerate	Generator
(2S)-Α-2-amino-4-methylvaleric acid	Generator
(2S)-a-Leucine	Generator
(2S)-Α-leucine	Generator
2-Amino-4-methylvalerate	Generator
(S)-2-Amino-4-methylpentanoate	HMDB
(S)-2-Amino-4-methylpentanoic acid	HMDB
(S)-2-Amino-4-methylvalerate	HMDB
(S)-2-Amino-4-methylvaleric acid	HMDB
4-Methyl-L-norvaline	HMDB
L-(+)-Leucine	HMDB
L-a-Aminoisocaproate	HMDB
L-a-Aminoisocaproic acid	HMDB
L-alpha-Aminoisocaproate	HMDB
L-alpha-Aminoisocaproic acid	HMDB
Leucine, L-isomer	HMDB
L-Isomer leucine	HMDB
Leucine, L isomer	HMDB

Chemical Formula

C₆H₁₃NO₂

Average Molecular Weight

131.1729

Monoisotopic Molecular Weight

131.094628665

IUPAC Name

(2S)-2-amino-4-methylpentanoic acid

Traditional Name

L-leucine

CAS Registry Number

61-90-5

SMILES

CC(C)C[C@H](N)C(O)=O

InChI Identifier

InChI=1S/C6H13NO2/c1-4(2)3-5(7)6(8)9/h4-5H,3,7H2,1-2H3,(H,8,9)/t5-/m0/s1

InChI Key

ROHFNLRQFUQHCH-YFKPBYRVSA-N

Chemical Taxonomy

Description

Belongs to the class of organic compounds known as leucine and derivatives. Leucine and derivatives are compounds containing leucine or a derivative thereof resulting from reaction of leucine at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom.

Kingdom

Organic compounds

Super Class

Organic acids and derivatives

Class

Carboxylic acids and derivatives

Sub Class

Amino acids, peptides, and analogues

Direct Parent

Leucine and derivatives

Alternative Parents

Substituents

Leucine or derivatives
Alpha-amino acid
L-alpha-amino acid
Branched fatty acid
Methyl-branched fatty acid
Fatty acid
Fatty acyl
Amino acid
Monocarboxylic acid or derivatives
Carboxylic acid
Organic oxide
Organopnictogen compound
Primary amine
Organooxygen compound
Organonitrogen compound
Primary aliphatic amine
Carbonyl group
Organic oxygen compound
Amine
Organic nitrogen compound
Hydrocarbon derivative
Aliphatic acyclic compound

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

proteinogenic amino acid (CHEBI:15603 )
L-alpha-amino acid (CHEBI:15603 )
leucine (CHEBI:15603 )
pyruvate family amino acid (CHEBI:15603 )
Common amino acids (C00123 )

Ontology

Not Available

Physical Properties

State

Solid

Experimental Molecular Properties

Property	Value	Reference
Melting Point	268 - 288 °C	Not Available
Boiling Point	Not Available	Not Available
Water Solubility	21.5 mg/mL	Not Available
LogP	-1.52	HANSCH,C ET AL. (1995)

Experimental Chromatographic Properties

Experimental Collision Cross Sections

Adduct Type	Data Source	CCS Value (Å²)	Reference
[M-H]-	Baker	133.89	30932474
[M-H]-	McLean	131.5	30932474
[M-H]-	MetCCS_test_neg	128.5	30932474
[M-H]-	Astarita_neg	128.7	30932474
[M+H]+	Astarita_pos	128.3	30932474
[M+H]+	Baker	136.54	30932474
[M+H]+	McLean	134.7	30932474
[M-H]-	Not Available	132.6	http://allccs.zhulab.cn/database/detail?ID=AllCCS00000088
[M+H]+	Not Available	134.9	http://allccs.zhulab.cn/database/detail?ID=AllCCS00000088

Predicted Molecular Properties

Property	Value	Source
Water Solubility	69.8 g/L	ALOGPS
logP	-1.8	ALOGPS
logP	-1.6	ChemAxon
logS	-0.27	ALOGPS
pKa (Strongest Acidic)	2.79	ChemAxon
pKa (Strongest Basic)	9.52	ChemAxon
Physiological Charge	0	ChemAxon
Hydrogen Acceptor Count	3	ChemAxon
Hydrogen Donor Count	2	ChemAxon
Polar Surface Area	63.32 Å²	ChemAxon
Rotatable Bond Count	3	ChemAxon
Refractivity	34.17 m³·mol⁻¹	ChemAxon
Polarizability	14.16 Å³	ChemAxon
Number of Rings	0	ChemAxon
Bioavailability	Yes	ChemAxon
Rule of Five	Yes	ChemAxon
Ghose Filter	No	ChemAxon
Veber's Rule	No	ChemAxon
MDDR-like Rule	No	ChemAxon

Predicted Chromatographic Properties

Predicted Collision Cross Sections

Predictor	Adduct Type	CCS Value (Å²)	Reference
DarkChem	[M+H]+	129.242	31661259
DarkChem	[M-H]-	124.628	31661259
AllCCS	[M+H]+	132.017	32859911
AllCCS	[M-H]-	130.03	32859911
DeepCCS	[M+H]+	129.797	30932474
DeepCCS	[M-H]-	126.152	30932474
DeepCCS	[M-2H]-	163.521	30932474
DeepCCS	[M+Na]+	138.674	30932474
AllCCS	[M+H]+	132.0	32859911
AllCCS	[M+H-H2O]+	127.9	32859911
AllCCS	[M+NH4]+	135.8	32859911
AllCCS	[M+Na]+	136.9	32859911
AllCCS	[M-H]-	130.0	32859911
AllCCS	[M+Na-2H]-	132.9	32859911
AllCCS	[M+HCOO]-	136.0	32859911

Predicted Retention Times

Underivatized

Chromatographic Method	Retention Time	Reference
Measured using a Waters Acquity ultraperformance liquid chromatography (UPLC) ethylene-bridged hybrid (BEH) C18 column (100 mm × 2.1 mm; 1.7 μmparticle diameter). Predicted by Afia on May 17, 2022. Predicted by Afia on May 17, 2022.	1.2 minutes	32390414
Predicted by Siyang on May 30, 2022	10.0614 minutes	33406817
Predicted by Siyang using ReTip algorithm on June 8, 2022	6.6 minutes	32390414
AjsUoB = Accucore 150 Amide HILIC with 10mM Ammonium Formate, 0.1% Formic Acid	305.8 seconds	40023050
Fem_Long = Waters ACQUITY UPLC HSS T3 C18 with Water:MeOH and 0.1% Formic Acid	721.2 seconds	40023050
Fem_Lipids = Ascentis Express C18 with (60:40 water:ACN):(90:10 IPA:ACN) and 10mM NH4COOH + 0.1% Formic Acid	330.1 seconds	40023050
Life_Old = Waters ACQUITY UPLC BEH C18 with Water:(20:80 acetone:ACN) and 0.1% Formic Acid	77.4 seconds	40023050
Life_New = RP Waters ACQUITY UPLC HSS T3 C18 with Water:(30:70 MeOH:ACN) and 0.1% Formic Acid	183.8 seconds	40023050
RIKEN = Waters ACQUITY UPLC BEH C18 with Water:ACN and 0.1% Formic Acid	59.5 seconds	40023050
Eawag_XBridgeC18 = XBridge C18 3.5u 2.1x50 mm with Water:MeOH and 0.1% Formic Acid	311.8 seconds	40023050
BfG_NTS_RP1 =Agilent Zorbax Eclipse Plus C18 (2.1 mm x 150 mm, 3.5 um) with Water:ACN and 0.1% Formic Acid	276.7 seconds	40023050
HILIC_BDD_2 = Merck SeQuant ZIC-HILIC with ACN(0.1% formic acid):water(16 mM ammonium formate)	460.9 seconds	40023050
UniToyama_Atlantis = RP Waters Atlantis T3 (2.1 x 150 mm, 5 um) with ACN:Water and 0.1% Formic Acid	674.5 seconds	40023050
BDD_C18 = Hypersil Gold 1.9µm C18 with Water:ACN and 0.1% Formic Acid	161.1 seconds	40023050
UFZ_Phenomenex = Kinetex Core-Shell C18 2.6 um, 3.0 x 100 mm, Phenomenex with Water:MeOH and 0.1% Formic Acid	830.2 seconds	40023050
SNU_RIKEN_POS = Waters ACQUITY UPLC BEH C18 with Water:ACN and 0.1% Formic Acid	184.9 seconds	40023050
RPMMFDA = Waters ACQUITY UPLC BEH C18 with Water:ACN and 0.1% Formic Acid	246.7 seconds	40023050
MTBLS87 = Merck SeQuant ZIC-pHILIC column with ACN:Water and :ammonium carbonate	491.6 seconds	40023050
KI_GIAR_zic_HILIC_pH2_7 = Merck SeQuant ZIC-HILIC with ACN:Water and 0.1% FA	391.5 seconds	40023050
Meister zic-pHILIC pH9.3 = Merck SeQuant ZIC-pHILIC column with ACN:Water 5mM NH4Ac pH9.3 and 5mM ammonium acetate in water	240.0 seconds	40023050

Predicted Kovats Retention Indices

Underivatized

Metabolite	SMILES	Kovats RI Value	Column Type	Reference
L-Leucine	CC(C)C[C@H](N)C(O)=O	1933.5	Standard polar	33892256
L-Leucine	CC(C)C[C@H](N)C(O)=O	1111.9	Standard non polar	33892256
L-Leucine	CC(C)C[C@H](N)C(O)=O	1204.1	Semi standard non polar	33892256

Derivatized

Derivative Name / Structure	SMILES	Kovats RI Value	Column Type	Reference
L-Leucine,1TMS,isomer #1	CC(C)C[C@H](N)C(=O)O[Si](C)(C)C	1170.2	Semi standard non polar	33892256
L-Leucine,1TMS,isomer #2	CC(C)C[C@H](N[Si](C)(C)C)C(=O)O	1254.8	Semi standard non polar	33892256
L-Leucine,2TMS,isomer #1	CC(C)C[C@H](N[Si](C)(C)C)C(=O)O[Si](C)(C)C	1291.2	Semi standard non polar	33892256
L-Leucine,2TMS,isomer #1	CC(C)C[C@H](N[Si](C)(C)C)C(=O)O[Si](C)(C)C	1309.8	Standard non polar	33892256
L-Leucine,2TMS,isomer #1	CC(C)C[C@H](N[Si](C)(C)C)C(=O)O[Si](C)(C)C	1399.1	Standard polar	33892256
L-Leucine,2TMS,isomer #2	CC(C)C[C@@H](C(=O)O)N([Si](C)(C)C)[Si](C)(C)C	1455.3	Semi standard non polar	33892256
L-Leucine,2TMS,isomer #2	CC(C)C[C@@H](C(=O)O)N([Si](C)(C)C)[Si](C)(C)C	1364.0	Standard non polar	33892256
L-Leucine,2TMS,isomer #2	CC(C)C[C@@H](C(=O)O)N([Si](C)(C)C)[Si](C)(C)C	1562.8	Standard polar	33892256
L-Leucine,3TMS,isomer #1	CC(C)C[C@@H](C(=O)O[Si](C)(C)C)N([Si](C)(C)C)[Si](C)(C)C	1493.4	Semi standard non polar	33892256
L-Leucine,3TMS,isomer #1	CC(C)C[C@@H](C(=O)O[Si](C)(C)C)N([Si](C)(C)C)[Si](C)(C)C	1445.1	Standard non polar	33892256
L-Leucine,3TMS,isomer #1	CC(C)C[C@@H](C(=O)O[Si](C)(C)C)N([Si](C)(C)C)[Si](C)(C)C	1394.1	Standard polar	33892256
L-Leucine,1TBDMS,isomer #1	CC(C)C[C@H](N)C(=O)O[Si](C)(C)C(C)(C)C	1398.1	Semi standard non polar	33892256
L-Leucine,1TBDMS,isomer #2	CC(C)C[C@H](N[Si](C)(C)C(C)(C)C)C(=O)O	1488.3	Semi standard non polar	33892256
L-Leucine,2TBDMS,isomer #1	CC(C)C[C@H](N[Si](C)(C)C(C)(C)C)C(=O)O[Si](C)(C)C(C)(C)C	1716.4	Semi standard non polar	33892256
L-Leucine,2TBDMS,isomer #1	CC(C)C[C@H](N[Si](C)(C)C(C)(C)C)C(=O)O[Si](C)(C)C(C)(C)C	1724.8	Standard non polar	33892256
L-Leucine,2TBDMS,isomer #1	CC(C)C[C@H](N[Si](C)(C)C(C)(C)C)C(=O)O[Si](C)(C)C(C)(C)C	1705.1	Standard polar	33892256
L-Leucine,2TBDMS,isomer #2	CC(C)C[C@@H](C(=O)O)N([Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1852.9	Semi standard non polar	33892256
L-Leucine,2TBDMS,isomer #2	CC(C)C[C@@H](C(=O)O)N([Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1787.1	Standard non polar	33892256
L-Leucine,2TBDMS,isomer #2	CC(C)C[C@@H](C(=O)O)N([Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1780.4	Standard polar	33892256
L-Leucine,3TBDMS,isomer #1	CC(C)C[C@@H](C(=O)O[Si](C)(C)C(C)(C)C)N([Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	2117.0	Semi standard non polar	33892256
L-Leucine,3TBDMS,isomer #1	CC(C)C[C@@H](C(=O)O[Si](C)(C)C(C)(C)C)N([Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	2059.0	Standard non polar	33892256
L-Leucine,3TBDMS,isomer #1	CC(C)C[C@@H](C(=O)O[Si](C)(C)C(C)(C)C)N([Si](C)(C)C(C)(C)C)[Si](C)(C)C(C)(C)C	1820.9	Standard polar	33892256

Spectra

Biological Properties

Cellular Locations

Extracellular
Mitochondria

Biospecimen Locations

Blood
Breast Milk
Cerebrospinal Fluid (CSF)
Feces
Saliva
Sweat
Urine

Tissue Locations

Adipose Tissue
Adrenal Medulla
Bladder
Epidermis
Fibroblasts
Intestine
Kidney
Neuron
Placenta
Platelet
Prostate
Skeletal Muscle
Testis

Pathways

Name	SMPDB/PathBank	KEGG
Valine, leucine and isoleucine degradation	Not Available
Transcription/Translation	SMP00019	Not Available
Beta-Ketothiolase Deficiency		Not Available
2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency		Not Available
Propionic Acidemia		Not Available

Normal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	123 (98-148) uM	Adult (>18 years old)	Both	Normal	12297216	details
Blood	Detected and Quantified	70.0 +/- 25.0 uM	Newborn (0-30 days old)	Not Specified	Normal	Geigy Scientific ...	details
Blood	Detected and Quantified	134.0 +/- 20.0 uM	Children (1-13 years old)	Male	Normal	Geigy Scientific ...	details
Blood	Detected and Quantified	160.0 +/- 27.0 uM	Adult (>18 years old)	Female	Normal	Geigy Scientific ...	details
Blood	Detected and Quantified	157.0 +/- 30.0 uM	Adult (>18 years old)	Male	Normal	Geigy Scientific ...	details
Blood	Detected and Quantified	251 +/- 5 uM	Adult (>18 years old)	Both	Normal	16789974	details
Blood	Detected and Quantified	98.7 +/- 11.5 uM	Adult (>18 years old)	Both	Normal	21359215	details
Blood	Detected and Quantified	55-183 uM	Newborn (0-30 days old)	Both	Normal	BC Children's Hos...	details
Blood	Detected and Quantified	43-165 uM	Infant (1 - 3 months old)	Both	Normal	BC Children's Hos...	details
Blood	Detected and Quantified	40-180 uM	Children (3 months - 6 years old)	Both	Normal	BC Children's Hos...	details
Blood	Detected and Quantified	55-174 uM	Children (6 - 18 years old)	Both	Normal	BC Children's Hos...	details
Blood	Detected and Quantified	159 +/- 23 uM	Adult (>18 years old)	Male	Normal	2415198	details
Blood	Detected and Quantified	120 +/- 11 uM	Adult (>18 years old)	Female	Normal	2415198	details
Blood	Detected and Quantified	150.1 +/- 27.7 uM	Adult (>18 years old)	Both	Normal	28278231	details
Blood	Detected and Quantified	70.00-180.0 uM	Adult (>18 years old)	Both	Normal	The Metabolo...	details
Blood	Detected and Quantified	158.3 +/- 37.6 uM	Children (1 - 13 years old)	Not Specified	Normal	18088602	details
Blood	Detected and Quantified	48-160 uM	Infant (0-1 year old)	Not Specified	Normal	20549362	details
Blood	Detected and Quantified	127.4(100.5-150.2) uM	Children (1-13 uears old)	Both	Normal	27294788	details
Blood	Detected and Quantified	168 (134-216) uM	Infant (0-1 year old)	Not Available	Normal	25754623	details
Blood	Detected and Quantified	156 (134-183) uM	Newborn (0-30 days old)	Not Available	Normal	25754623	details
Blood	Detected and Quantified	76-168 uM	Adolescent (13-18 years old)	Not Specified	Normal	22956686	details
Blood	Detected and Quantified	49-216 uM	Children (1-13 years old)	Not Specified	Normal	22956686	details
Blood	Detected and Quantified	72-201 uM	Adult (>18 years old)	Not Specified	Normal	22956686	details
Blood	Detected and Quantified	64-164 uM	Children (1-13 years old)	Not Specified	Normal	22956686	details
Blood	Detected and Quantified	68-168 uM	Infant (0-1 year old)	Not Specified	Normal	24341803	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	32966057	details
Blood	Detected and Quantified	136.03 ± 28.86 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	151.33 ± 35.01 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	113.32 ± 26.83 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	139.91 ± 24.52 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	150.27 ± 27.81 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	111.26 ± 22.98 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	141.53 ± 35.95 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	146.73 ± 38.89 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Blood	Detected and Quantified	103.37 ± 20.79 uM	Adult (>18 years old)	Both	Normal	Quantitative comp...	details
Breast Milk	Detected and Quantified	24.4 +/- 6.3 uM	Adult (>18 years old)	Female	Normal	24027187	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	10.1 +/- 2.1 uM	Adult (>18 years old)	Both	Normal	Geigy Scientific ...	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	14.5 +/- 3.7 uM	Adult (>18 years old)	Not Specified	Normal	15911239	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	18.6 +/- 4.1 uM	Adult (>18 years old)	Not Specified	Normal	6198473	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	11.2 +/- 3.5 uM	Adult (>18 years old)	Not Specified	Normal	6198473	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	16 +/- 9 uM	Adult (>18 years old)	Both	Normal	18502700	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	3.3-21.3 uM	Children (0 - 10 years old)	Both	Normal	BC Children's Hos...	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	1.4-23.6 uM	Adolescent (>11 years old)	Both	Normal	BC Children's Hos...	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	11.0-18.7 uM	Children (1-13 years old)	Not Specified	Normal	27912044	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	14.1-22.9 uM	Newborn (0-30 days old)	Not Specified	Normal	27912044	details
Feces	Detected and Quantified	50.773 +/- 61.369 nmol/g wet feces	Not Specified	Not Specified	Normal	19573517	details
Feces	Detected and Quantified	2014.898 +/- 1413.402 nmol/g wet feces	Not Specified	Not Specified	Normal	20669995	details
Feces	Detected and Quantified	2076 +/- 837 nmol/g wet feces	Adult (>18 years old)	Female	Normal	23997757	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	17269711	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	18052033	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	18085514	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	19006102	details
Feces	Detected but not Quantified	Not Quantified	Not Specified	Not Specified	Normal	19573517	details
Feces	Detected but not Quantified	Not Quantified	Not Specified	Not Specified	Normal	20669995	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	21761941	details
Feces	Detected but not Quantified	Not Quantified	Infant (0-1 year old)	Both	Normal	22411374	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	23940645	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	24029555	details
Feces	Detected but not Quantified	Not Quantified	Infant (0-1 year old)	Both	Normal	24375085	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	25670064	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	Normal	26709303	details
Feces	Detected but not Quantified	Not Quantified	Not Specified	Both	Normal	25486321	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	17269711	details
Feces	Detected but not Quantified	Not Quantified	Children (1-13 years old)	Both	Normal	24130822	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	25598765	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	27065191	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	27107423	details
Feces	Detected but not Quantified	Not Quantified	Children (6 - 18 years old)	Not Specified	Normal	27609529	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	Normal	Christopher ...	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	27543620	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	25037050	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Normal	25985090	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	28587349	details
Feces	Detected and Quantified	1780 +/- 1160 nmol/g wet feces	Adult (>18 years old)	Both	Normal	27624970	details
Feces	Detected and Quantified	300 +/- 290 nmol/g wet feces	Adult (>18 years old)	Both	Normal	27624970	details
Feces	Detected and Quantified	7601 nmol/g wet feces	Adult (>18 years old)	Not Specified	Normal	26416813	details
Feces	Detected and Quantified	7298 nmol/g wet feces	Adult (>18 years old)	Not Specified	Normal	26416813	details
Feces	Detected and Quantified	8209 nmol/g wet feces	Adult (>18 years old)	Not Specified	Normal	26416813	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	29808030	details
Saliva	Detected and Quantified	53.50 +/- 32.95 uM	Adult (>18 years old)	Both	Normal	Zerihun T. Dame, ...	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Normal	22727327	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Normal	22308371	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Normal	12097436	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	21190195	details
Saliva	Detected and Quantified	8.1 +/- 4.1 uM	Adult (>18 years old)	Male	Normal	21164041	details
Saliva	Detected and Quantified	11.3 +/- 7.6 uM	Adult (>18 years old)	Male	Normal	21164041	details
Saliva	Detected and Quantified	4.2 +/- 3.6 uM	Adult (>18 years old)	Male	Normal	21164041	details
Saliva	Detected and Quantified	6.7 +/- 5.8 uM	Adult (>18 years old)	Male	Normal	21164041	details
Saliva	Detected and Quantified	7.24 +/- 5.62 uM	Adult (>18 years old)	Female	Normal	23857558	details
Saliva	Detected and Quantified	16.0 +/- 21.5 uM	Adult (>18 years old)	Male	Normal	Sugimoto et al. (...	details
Saliva	Detected and Quantified	2.79 +/- 1.21 uM	Adult (>18 years old)	Female	Normal	Sugimoto et al. (...	details
Saliva	Detected and Quantified	3.80 +/- 2.10 uM	Adult (>18 years old)	Female	Normal	Sugimoto et al. (...	details
Saliva	Detected and Quantified	6.61 +/- 4.84 uM	Adult (>18 years old)	Both	Normal	Sugimoto et al. (...	details
Sweat	Detected and Quantified	< 10 uM	Adult (60 years old)	Male	Normal	22194922	details
Sweat	Detected and Quantified	< 10 uM	Adult (40 years old)	Male	Normal	22194922	details
Sweat	Detected but not Quantified	Not Quantified	Adult	Both	Normal	26755145	details
Urine	Detected and Quantified	7.58 +/- 4.10 umol/mmol creatinine	Infant (0-1 year old)	Both	Normal	2026685	details
Urine	Detected and Quantified	4.868 (1.842-8.421) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	Not Available	details
Urine	Detected and Quantified	6.67 (0-13.33) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	Geigy Scientific ... West Cadwell, N.J... Basel, Switzerlan...	details
Urine	Detected and Quantified	2.5 +/- 1.0 umol/mmol creatinine	Children (1-13 years old)	Male	Normal	Geigy Scientific ... West Cadwell, N.J... Basel, Switzerlan...	details
Urine	Detected and Quantified	3.0+/- 1.5 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	Geigy Scientific ... West Cadwell, N.J... Basel, Switzerlan...	details
Urine	Detected and Quantified	2.5 +/- 1.3 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	Geigy Scientific ... West Cadwell, N.J... Basel, Switzerlan...	details
Urine	Detected and Quantified	3.5 umol/mmol creatinine	Adult (>18 years old)	Both	Normal	19309105	details
Urine	Detected and Quantified	6.10-19.07 umol/mmol creatinine	Adult (>18 years old)	Both	Normal	David F. Putnam C...	details
Urine	Detected and Quantified	1.2 umol/mmol creatinine	Adult (>18 years old)	Both	Normal	21388201	details
Urine	Detected and Quantified	3.0 (1.6-6.0) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	2.8 (1.6-5.4) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	8.0076 +/- 3.0528 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Analysis of 30 no...	details
Urine	Detected and Quantified	7.547 +/- 4.945 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Analysis of 30 no...	details
Urine	Detected and Quantified	2.04 - 19.67 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	2.83 - 9.27 umol/mmol creatinine	Infant (1 - 6 months old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	2.83 - 12.44 umol/mmol creatinine	Infant (6 months - <1 year old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	2.04 - 13.23 umol/mmol creatinine	Children (1 - 2 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	2.83 - 14.02 umol/mmol creatinine	Children (2 - 4 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	2.04 - 12.44 umol/mmol creatinine	Children (4 - 13 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	1.24 - 8.37 umol/mmol creatinine	Adolescent (13 - 21 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	1.24 - 8.37 umol/mmol creatinine	Adult (>21 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	1.4-2.3 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	27012787	details
Urine	Detected and Quantified	1.4-2.3 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	27012787	details
Urine	Detected and Quantified	3.166-45.450 umol/mmol creatinine	Infant (0-1 year old)	Not Specified	Normal	20549362	details
Urine	Detected and Quantified	0.6 +/- 0.2 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	3168222	details
Urine	Detected and Quantified	0.6 +/- 0.3 umol/mmol creatinine	Infant (1 - 6 months old)	Both	Normal	3168222	details
Urine	Detected and Quantified	0.6 +/-0.3 umol/mmol creatinine	Infant (6 months - <1 year old)	Both	Normal	3168222	details
Urine	Detected and Quantified	28.27 +/- 11.31 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	19468821	details
Urine	Detected and Quantified	44.09 +/- 22.61 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	19468821	details
Urine	Detected and Quantified	44.09 +/- 24.87 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	19468821	details
Urine	Detected and Quantified	1.15-19.93 umol/mmol creatinine	Newborn (0-30 days old)	Female	Normal	25536744	details
Urine	Detected and Quantified	0.45-17.10 umol/mmol creatinine	Newborn (0-30 days old)	Male	Normal	25536744	details
Urine	Detected and Quantified	4.030 +/- 4.10 umol/mmol creatinine	Newborn (0-30 days old)	Male	Normal	25536744	details
Urine	Detected and Quantified	7.37 +/- 5.63 umol/mmol creatinine	Children (0-2 years old)	Male	Normal	25536744	details
Urine	Detected and Quantified	7.46 +/- 5.15 umol/mmol creatinine	Children (0-2 years old)	Female	Normal	25536744	details
Urine	Detected and Quantified	8.29 +/- 6.53 umol/mmol creatinine	Newborn (0-30 days old)	Female	Normal	25536744	details
Urine	Detected and Quantified	13-40 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	31506554	details
Urine	Detected and Quantified	0.33-13.41 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	32340350	details
Urine	Detected and Quantified	5.4 +/- 2.86 umol/mmol creatinine	Newborn (0-30 days old)	Female	Normal	32340350	details
Urine	Detected and Quantified	6.26 +/- 2.87 umol/mmol creatinine	Newborn (0-30 days old)	Male	Normal	32340350	details
Urine	Detected and Quantified	<22.62 umol/mmol creatinine	Infant (0-1 year old)	Not Specified	Normal	Mayo Clinic	details
Urine	Detected and Quantified	1.70-18.89 umol/mmol creatinine	Children (1-13 years old)	Not Specified	Normal	Mayo Clinic	details
Urine	Detected and Quantified	1.36-11.31 umol/mmol creatinine	Children (1-13 years old)	Not Specified	Normal	Mayo Clinic	details
Urine	Detected and Quantified	1.47-8.26 umol/mmol creatinine	Children (1-13 years old)	Not Specified	Normal	Mayo Clinic	details
Urine	Detected and Quantified	<7.013 umol/mmol creatinine	Adolescent (13-18 years old)	Not Specified	Normal	Mayo Clinic	details
Urine	Detected and Quantified	<5.77 umol/mmol creatinine	Adult (>18 years old)	Not Specified	Normal	Mayo Clinic	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Normal	32966057	details
Urine	Detected and Quantified	6.47 (4.23-15.05) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	Analysis of 40 NI...	details

Abnormal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	60.0 (46.9) uM	Adult (>18 years old)	Female	Pregnancy	23313728	details
Blood	Detected and Quantified	138.2(116.4-167.3) uM	Children (1-13 uears old)	Both	Environmental enteric dysfunction	27294788	details
Blood	Detected and Quantified	365.9 +/- 287.9 uM	Children (1 - 13 years old)	Not Specified	Maple syrup urine disease	18088602	details
Blood	Detected and Quantified	66 uM	Infant (0-1 year old)	Male	Fumaric aciduria	20549362	details
Blood	Detected and Quantified	1694 uM	Children (1-13 years old)	Female	Maple syrup urine disease	Peritoneal dialys...	details
Blood	Detected and Quantified	69.55 (16.39) uM	Adult (>18 years old)	Female	Pregnancy	24704061	details
Blood	Detected and Quantified	73.74 (23.04) uM	Adult (>18 years old)	Female	Pregnancy with fetus having congenital heart defect	24704061	details
Blood	Detected and Quantified	71.6 +/- 40.6 uM	Adult (>18 years old)	Female	Pregnancy	23535240	details
Blood	Detected and Quantified	72.95 +/- 24.0 uM	Adult (>18 years old)	Female	Pregnancy with fetuses with trisomy 18	23535240	details
Blood	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	25105552	details
Blood	Detected and Quantified	103.0 (97.8-108.0) uM	Adult (>18 years old)	Both	Epilepsy	14992292	details
Blood	Detected and Quantified	67.3 (34.6) uM	Adult (>18 years old)	Female	Down syndrome pregnancy	23313728	details
Blood	Detected and Quantified	87.1 (61.9) uM	Adult (>18 years old)	Female	Pregnancy	23159745	details
Blood	Detected and Quantified	171 +/- 30 uM	Adult (>18 years old)	Male	Schizophrenia	2415198	details
Blood	Detected and Quantified	141 +/- 26 uM	Adult (>18 years old)	Female	Schizophrenia	2415198	details
Blood	Detected and Quantified	114.5 (98.5) uM	Adult (>18 years old)	Female	Late-onset preeclampsia	23159745	details
Blood	Detected and Quantified	96.9 (74.9) uM	Adult (>18 years old)	Female	Pregnancy	22494326	details
Blood	Detected and Quantified	67.5 (15.5) uM	Adult (>18 years old)	Female	Early preeclampsia	22494326	details
Blood	Detected and Quantified	95.3 (89.3-100.0) uM	Adult (>18 years old)	Both	Epilepsy	14992292	details
Blood	Detected and Quantified	18-46 uM	Adolescent (13-18 years old)	Female	Branched-chain Keto Acid Dehydrogenase Kinase Deficiency	22956686	details
Blood	Detected and Quantified	20-46 uM	Adult (>18 years old)	Female	Branched-chain Keto Acid Dehydrogenase Kinase Deficiency	22956686	details
Blood	Detected and Quantified	643.0 - 667.0 uM	Newborn (0-30 days old)	Both	Maple syrup urine disease (MSUD)	12101068	details
Blood	Detected and Quantified	15-113 uM	Children (1-13 years old)	Both	Branched-chain Keto Acid Dehydrogenase Kinase Deficiency	22956686	details
Blood	Detected and Quantified	67.5 (15-76) uM	Children (1-13 years old)	Male	Lipoyltransferase 1 Deficiency	24341803	details
Blood	Detected and Quantified	273.0 +/- 10.0 uM	Adult (>18 years old)	Both	Heart failure	16789974	details
Blood	Detected and Quantified	66.0 - 161.0 uM	Newborn (0-30 days old)	Both	Phenylketonuria	12101068	details
Blood	Detected and Quantified	74.8 +/- 34.3 uM	Adult (>18 years old)	Both	Heart Transplant	21359215	details
Blood	Detected and Quantified	686.117 uM	Infant (0-1 year old)	Male	Dihydrolipoamide Dehydrogenase Deficiency	6688766	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	11.5 +/- 1.5 uM	Adult (>18 years old)	Both	Alzheimer's disease	17031479	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	16.5 +/- 7.0 uM	Children (1-13 years old)	Not Specified	Leukemia	15911239	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	13.1 +/- 5.6 uM	Children (1-13 years old)	Not Specified	Leukemia	15911239	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	8.2 uM	Children (1-13 years old)	Female	Epilepsy, early-onset, vitamin B6-dependent	27912044	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	26.7 uM	Newborn (0-30 days old)	Female	Epilepsy, early-onset, vitamin B6-dependent	27912044	details
Cerebrospinal Fluid (CSF)	Detected and Quantified	892 uM	Children (1-13 years old)	Female	Maple syrup urine disease	Peritoneal dialys...	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	28587349	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	25037050	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	27015276	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	Myalgic encephalomyelitis/chronic fatigue syndrome	Christopher ...	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	rheumatoid arthritis	Tie-juan Sha...	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Ulcerative colitis	25598765	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	ankylosing spondylitis	Tie-juan Sha...	details
Feces	Detected but not Quantified	Not Quantified	Children (6 - 18 years old)	Not Specified	Unclassified IBD	27609529	details
Feces	Detected but not Quantified	Not Quantified	Children (6 - 18 years old)	Not Specified	Ulcerative colitis	27609529	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal Cancer	27275383	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Crohn’s Disease	17269711	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Ulcerative Colitis	17269711	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	19006102	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Irritable bowel syndrome	21761941	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Ulcerative colitis	21761941	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	23940645	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	25105552	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Irritable Bowel Syndrome	21494186	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Ulcerative colitis	17269711	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Crohn's disease	17269711	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	23940645	details
Feces	Detected but not Quantified	Not Quantified	Children (1-13 years old)	Both	Autism	24130822	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Crohns disease	25598765	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Immunoglobulin A nephropathy (IgAN) progressor	26476344	details
Feces	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal Cancer	27107423	details
Feces	Detected but not Quantified	Not Quantified	Children (6 - 18 years old)	Not Specified	Crohns disease	27609529	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Oral squamous cell carcinoma (OSCC)	21190195	details
Saliva	Detected and Quantified	5.66 +/- 3.83 uM	Adult (>18 years old)	Both	Lewy body disease	23857558	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Periodontal diseases	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Not Specified	Pancreatic cancer	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Female	Breast cancer	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Oral cancer	20300169	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Attachment loss	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Missing teeth	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Male	Periodontal Probing Depth	31026179	details
Saliva	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Oral leukoplakia (OLK)	21190195	details
Saliva	Detected and Quantified	2.73 +/- 0.76 uM	Adult (>18 years old)	Male	Alzheimer's disease	23857558	details
Saliva	Detected and Quantified	3.74 +/- 0.65 uM	Adult (>18 years old)	Male	Frontotemporal lobe dementia	23857558	details
Urine	Detected and Quantified	53.900-17.750 umol/mmol creatinine	Infant (0-1 year old)	Not Specified	Fumaric aciduria	20549362	details
Urine	Detected and Quantified	6.3164 +/- 4.2963 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Analysis of 30 no...	details
Urine	Detected and Quantified	0.91 +/- 0.11 umol/mmol creatinine	Adult (>18 years old)	Both	Alzheimer's disease	17031479	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Bladder cancer	28157703	details
Urine	Detected and Quantified	5.6052 +/- 3.0948 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Gastroesophageal reflux disease	Analysis of 30 no...	details
Urine	Detected and Quantified	8.333 +/- 7.338 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Analysis of 30 no...	details
Urine	Detected but not Quantified	Not Quantified	Adult (>18 years old)	Both	Colorectal cancer	25105552	details

Associated Disorders and Diseases

Disease References

Maple syrup urine disease
Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed:12101068 ] Barschak AG, Marchesan C, Sitta A, Deon M, Giugliani R, Wajner M, Vargas CR: Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles. Clin Biochem. 2008 Mar;41(4-5):317-24. Epub 2007 Dec 5. [PubMed:18088602 ] Wendel, U., Becker, K., Przyrembel, H. et al. (1980). Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids. Eur J Pediatr (1980) 134: 57. https://doi.org/10.1007/BF00442404. Eur J Pediatr.
Dihydrolipoamide Dehydrogenase Deficiency
Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I: Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta. 1983 Sep 30;133(2):133-40. [PubMed:6688766 ]
Fumarase deficiency
Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML: Fumaric aciduria: an overview and the first Brazilian case report. J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15. [PubMed:20549362 ]
Late-onset preeclampsia
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
Pregnancy
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ] Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ] Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8. [PubMed:23313728 ] Bahado-Singh RO, Akolekar R, Chelliah A, Mandal R, Dong E, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester trisomy 18 detection. Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25. [PubMed:23535240 ] Bahado-Singh RO, Ertl R, Mandal R, Bjorndahl TC, Syngelaki A, Han B, Dong E, Liu PB, Alpay-Savasan Z, Wishart DS, Nicolaides KH: Metabolomic prediction of fetal congenital heart defect in the first trimester. Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1. [PubMed:24704061 ]
Early preeclampsia
Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
Schizophrenia
Bjerkenstedt L, Edman G, Hagenfeldt L, Sedvall G, Wiesel FA: Plasma amino acids in relation to cerebrospinal fluid monoamine metabolites in schizophrenic patients and healthy controls. Br J Psychiatry. 1985 Sep;147:276-82. [PubMed:2415198 ]
Branched-chain Keto Acid Dehydrogenase Kinase Deficiency
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG: Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. [PubMed:22956686 ]
Lipoyltransferase 1 Deficiency
Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P: Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192. [PubMed:24341803 ]
Epilepsy
Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed:14992292 ]
Phenylketonuria
Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed:12101068 ]
Heart failure
Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed:16789974 ]
Epilepsy, early-onset, vitamin B6-dependent
Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT: Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011. [PubMed:27912044 ]
Alzheimer's disease
Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed:17031479 ] Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
Leukemia
Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed:15911239 ]
Crohn's disease
Marchesi JR, Holmes E, Khan F, Kochhar S, Scanlan P, Shanahan F, Wilson ID, Wang Y: Rapid and noninvasive metabonomic characterization of inflammatory bowel disease. J Proteome Res. 2007 Feb;6(2):546-51. [PubMed:17269711 ] Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1. [PubMed:25598765 ] Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158. [PubMed:27609529 ]
Ulcerative colitis
Marchesi JR, Holmes E, Khan F, Kochhar S, Scanlan P, Shanahan F, Wilson ID, Wang Y: Rapid and noninvasive metabonomic characterization of inflammatory bowel disease. J Proteome Res. 2007 Feb;6(2):546-51. [PubMed:17269711 ] Le Gall G, Noor SO, Ridgway K, Scovell L, Jamieson C, Johnson IT, Colquhoun IJ, Kemsley EK, Narbad A: Metabolomics of fecal extracts detects altered metabolic activity of gut microbiota in ulcerative colitis and irritable bowel syndrome. J Proteome Res. 2011 Sep 2;10(9):4208-18. doi: 10.1021/pr2003598. Epub 2011 Aug 8. [PubMed:21761941 ] Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1. [PubMed:25598765 ] Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158. [PubMed:27609529 ]
Colorectal cancer
Monleon D, Morales JM, Barrasa A, Lopez JA, Vazquez C, Celda B: Metabolite profiling of fecal water extracts from human colorectal cancer. NMR Biomed. 2009 Apr;22(3):342-8. doi: 10.1002/nbm.1345. [PubMed:19006102 ] Weir TL, Manter DK, Sheflin AM, Barnett BA, Heuberger AL, Ryan EP: Stool microbiome and metabolome differences between colorectal cancer patients and healthy adults. PLoS One. 2013 Aug 6;8(8):e70803. doi: 10.1371/journal.pone.0070803. Print 2013. [PubMed:23940645 ] Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14. [PubMed:25105552 ] Lin Y, Ma C, Liu C, Wang Z, Yang J, Liu X, Shen Z, Wu R: NMR-based fecal metabolomics fingerprinting as predictors of earlier diagnosis in patients with colorectal cancer. Oncotarget. 2016 May 17;7(20):29454-64. doi: 10.18632/oncotarget.8762. [PubMed:27107423 ] Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ] Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ] Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ] Wang X, Wang J, Rao B, Deng L: Gut flora profiling and fecal metabolite composition of colorectal cancer patients and healthy individuals. Exp Ther Med. 2017 Jun;13(6):2848-2854. doi: 10.3892/etm.2017.4367. Epub 2017 Apr 20. [PubMed:28587349 ]
Irritable bowel syndrome
Le Gall G, Noor SO, Ridgway K, Scovell L, Jamieson C, Johnson IT, Colquhoun IJ, Kemsley EK, Narbad A: Metabolomics of fecal extracts detects altered metabolic activity of gut microbiota in ulcerative colitis and irritable bowel syndrome. J Proteome Res. 2011 Sep 2;10(9):4208-18. doi: 10.1021/pr2003598. Epub 2011 Aug 8. [PubMed:21761941 ] Hong YS, Hong KS, Park MH, Ahn YT, Lee JH, Huh CS, Lee J, Kim IK, Hwang GS, Kim JS: Metabonomic understanding of probiotic effects in humans with irritable bowel syndrome. J Clin Gastroenterol. 2011 May-Jun;45(5):415-25. doi: 10.1097/MCG.0b013e318207f76c. [PubMed:21494186 ]
Autism
De Angelis M, Piccolo M, Vannini L, Siragusa S, De Giacomo A, Serrazzanetti DI, Cristofori F, Guerzoni ME, Gobbetti M, Francavilla R: Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLoS One. 2013 Oct 9;8(10):e76993. doi: 10.1371/journal.pone.0076993. eCollection 2013. [PubMed:24130822 ]
Rheumatoid arthritis
Tie-juan ShaoZhi-xing HeZhi-jun XieHai-chang LiMei-jiao WangCheng-ping Wen. Characterization of ankylosing spondylitis and rheumatoid arthritis using 1H NMR-based metabolomics of human fecal extracts. Metabolomics. April 2016, 12:70 [Link]
Attachment loss
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Missing teeth
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Periodontal Probing Depth
Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Lewy body disease
Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
Frontotemporal dementia
Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
Periodontal disease
Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
Pancreatic cancer
Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
Perillyl alcohol administration for cancer treatment
Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
Eosinophilic esophagitis
Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work). NA.

Associated OMIM IDs

261600 (Phenylketonuria)
616299 (Lipoyltransferase 1 Deficiency)
614923 (Branched-chain Keto Acid Dehydrogenase Kinase Deficiency)
246900 (Dihydrolipoamide Dehydrogenase Deficiency)
606812 (Fumarase deficiency)
181500 (Schizophrenia)
248600 (Maple syrup urine disease)
104300 (Alzheimer's disease)
617290 (Epilepsy, early-onset, vitamin B6-dependent)
266600 (Crohn's disease)
114500 (Colorectal cancer)
209850 (Autism)
180300 (Rheumatoid arthritis)
600274 (Frontotemporal dementia)
170650 (Periodontal disease)
260350 (Pancreatic cancer)
610247 (Eosinophilic esophagitis)

External Links

DrugBank ID

DB00149

Phenol Explorer Compound ID

Not Available

FooDB ID

KNApSAcK ID

Chemspider ID

KEGG Compound ID

BioCyc ID

BiGG ID

Wikipedia Link

METLIN ID

PubChem Compound

6106

PDB ID

Not Available

ChEBI ID

15603

Food Biomarker Ontology

Not Available

VMH ID

LEU_L

MarkerDB ID

MDB00000218

Good Scents ID

Not Available

References

Synthesis Reference

Leuchtenberger, Wolfgang; Karrenbauer, Michael; Ploecker, Ulf. Scale-up of an enzyme membrane reactor process for the manufacture of L-enantiomeric compounds. Annals of the New York Academy of Sciences (1984), 434(Enzyme Eng.), 78-86.

Material Safety Data Sheet (MSDS)

Download (PDF)

General References

Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
Nicholson JK, O'Flynn MP, Sadler PJ, Macleod AF, Juul SM, Sonksen PH: Proton-nuclear-magnetic-resonance studies of serum, plasma and urine from fasting normal and diabetic subjects. Biochem J. 1984 Jan 15;217(2):365-75. [PubMed:6696735 ]
Hagenfeldt L, Bjerkenstedt L, Edman G, Sedvall G, Wiesel FA: Amino acids in plasma and CSF and monoamine metabolites in CSF: interrelationship in healthy subjects. J Neurochem. 1984 Mar;42(3):833-7. [PubMed:6198473 ]
Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed:15911239 ]
Cynober LA: Plasma amino acid levels with a note on membrane transport: characteristics, regulation, and metabolic significance. Nutrition. 2002 Sep;18(9):761-6. [PubMed:12297216 ]
Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed:14992292 ]
Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed:12101068 ]
Yoshimasa T, Nakao K, Ohtsuki H, Li S, Imura H: Methionine-enkephalin and leucine-enkephalin in human sympathoadrenal system and pheochromocytoma. J Clin Invest. 1982 Mar;69(3):643-50. [PubMed:7061706 ]
Jansson T, Scholtbach V, Powell TL: Placental transport of leucine and lysine is reduced in intrauterine growth restriction. Pediatr Res. 1998 Oct;44(4):532-7. [PubMed:9773842 ]
Lichtenstein AH, Hachey DL, Millar JS, Jenner JL, Booth L, Ordovas J, Schaefer EJ: Measurement of human apolipoprotein B-48 and B-100 kinetics in triglyceride-rich lipoproteins using [5,5,5-2H3]leucine. J Lipid Res. 1992 Jun;33(6):907-14. [PubMed:1512514 ]
Mero A: Leucine supplementation and intensive training. Sports Med. 1999 Jun;27(6):347-58. [PubMed:10418071 ]
Sakamoto M, Nakao K, Yoshimasa T, Ikeda Y, Suda M, Takasu K, Shimbo S, Yanaihara N, Imura H: Occurrence of methionine-enkephalin-Arg6-Gly7-Leu8 with methionine-enkephalin, leucine-enkephalin and methionine-enkephalin-Arg6-Phe7 in human gastric antrum. J Clin Endocrinol Metab. 1983 Jan;56(1):202-4. [PubMed:6847871 ]
Yudkoff M, Daikhin Y, Nissim I, Horyn O, Luhovyy B, Lazarow A, Nissim I: Brain amino acid requirements and toxicity: the example of leucine. J Nutr. 2005 Jun;135(6 Suppl):1531S-8S. [PubMed:15930465 ]
Iannoli P, Miller JH, Wang HT, Bode B, Souba WW, Avissar NE, Sax HC: Characterization of L-leucine transport system in brush border membranes from human and rabbit small intestine. Metabolism. 1999 Nov;48(11):1432-6. [PubMed:10582553 ]
Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043. [PubMed:32033212 ]
Lynch CJ, Adams SH: Branched-chain amino acids in metabolic signalling and insulin resistance. Nat Rev Endocrinol. 2014 Dec;10(12):723-36. doi: 10.1038/nrendo.2014.171. Epub 2014 Oct 7. [PubMed:25287287 ]
Etzel MR: Manufacture and use of dairy protein fractions. J Nutr. 2004 Apr;134(4):996S-1002S. doi: 10.1093/jn/134.4.996S. [PubMed:15051860 ]
Wilkinson DJ, Hossain T, Hill DS, Phillips BE, Crossland H, Williams J, Loughna P, Churchward-Venne TA, Breen L, Phillips SM, Etheridge T, Rathmacher JA, Smith K, Szewczyk NJ, Atherton PJ: Effects of leucine and its metabolite beta-hydroxy-beta-methylbutyrate on human skeletal muscle protein metabolism. J Physiol. 2013 Jun 1;591(11):2911-23. doi: 10.1113/jphysiol.2013.253203. Epub 2013 Apr 3. [PubMed:23551944 ]

Enzymes

Enzyme Details

1. Branched-chain-amino-acid aminotransferase, cytosolic

General function:: Involved in catalytic activity
Specific function:: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
Gene Name:: BCAT1
Uniprot ID:: P54687
Molecular weight:: 38644.77

Reactions

Leucine + Oxoglutaric acid → Ketoleucine + Glutamic acid	details

Enzyme Details

2. Branched-chain-amino-acid aminotransferase, mitochondrial

General function:: Involved in catalytic activity
Specific function:: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.
Gene Name:: BCAT2
Uniprot ID:: O15382
Molecular weight:: 33776.315

Reactions

Leucine + Oxoglutaric acid → Ketoleucine + Glutamic acid	details

Enzyme Details

3. Probable leucine--tRNA ligase, mitochondrial

General function:: Involved in nucleotide binding
Specific function:: Not Available
Gene Name:: LARS2
Uniprot ID:: Q15031
Molecular weight:: 101975.43

Reactions

Adenosine triphosphate + Leucine + tRNA(Leu) → Adenosine monophosphate + Pyrophosphate + L-leucyl-tRNA(Leu)	details
Adenosine triphosphate + Leucine + tRNA(Leu) → Adenosine monophosphate + Pyrophosphate + L-Leucyl-tRNA	details

Enzyme Details

4. Leucine--tRNA ligase, cytoplasmic

General function:: Involved in nucleotide binding
Specific function:: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs.
Gene Name:: LARS
Uniprot ID:: Q9P2J5
Molecular weight:: 134465.155

Reactions

Adenosine triphosphate + Leucine + tRNA(Leu) → Adenosine monophosphate + Pyrophosphate + L-leucyl-tRNA(Leu)	details
Adenosine triphosphate + Leucine + tRNA(Leu) → Adenosine monophosphate + Pyrophosphate + L-Leucyl-tRNA	details

Enzyme Details

5. 4F2 cell-surface antigen heavy chain

General function:: Involved in catalytic activity
Specific function:: Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier
Gene Name:: SLC3A2
Uniprot ID:: P08195
Molecular weight:: 67993.3

Enzyme Details

6. Leucine carboxyl methyltransferase 2

General function:: Involved in methyltransferase activity
Specific function:: Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. May methylate the carboxyl group of leucine residues to form alpha- leucine ester residues
Gene Name:: LCMT2
Uniprot ID:: O60294
Molecular weight:: 75601.1

Enzyme Details

7. Leucine carboxyl methyltransferase 1

General function:: Involved in methyltransferase activity
Specific function:: Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues.
Gene Name:: LCMT1
Uniprot ID:: Q9UIC8
Molecular weight:: 32171.66

Transporters

Enzyme Details

1. Large neutral amino acids transporter small subunit 2

General function:: Involved in transport
Specific function:: Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney
Gene Name:: SLC7A8
Uniprot ID:: Q9UHI5
Molecular weight:: 58381.1

Showing metabocard for Leucine (HMDB0000687)

MOL for HMDB0000687 (Leucine)

3D MOL for HMDB0000687 (Leucine)

3D SDF for HMDB0000687 (Leucine)

3D-SDF for HMDB0000687 (Leucine)

PDB for HMDB0000687 (Leucine)

3D PDB for HMDB0000687 (Leucine)

SMILES for HMDB0000687 (Leucine)

INCHI for HMDB0000687 (Leucine)

Structure for HMDB0000687 (Leucine)

3D Structure for HMDB0000687 (Leucine)

Experimental Collision Cross Sections

Predicted Collision Cross Sections

Predicted Retention Times

Underivatized

Predicted Kovats Retention Indices

Underivatized

Derivatized

Enzymes

Reactions

Reactions

Reactions

Reactions

Transporters