- Metabolite
- HMDB0000959 (Tiglylglycine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 145-440 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
Comments
n=1
References
- Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005 Sep;58(3):488-91. [PubMed:16148061 ]