- Metabolite
- HMDB0000243 (Pyruvic acid)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 253 - 345 uM
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- Fumarase deficiency
References
- Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ: Fumarase deficiency in dichorionic diamniotic twins. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4. [PubMed:24182348 ]