- Metabolite
- HMDB0000190 (Lactic acid)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 5900 +/- 4500 uM
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- Pyruvate dehydrogenase deficiency (E1)
References
- Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW: The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. [PubMed:22079328 ]