- Metabolite
- HMDB0000190 (Lactic acid)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 2200-6300 uM
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2
References
- Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M: Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 2007 Mar;130(Pt 3):853-61. Epub 2007 Feb 7. [PubMed:17287286 ]