- Metabolite
- HMDB0000190 (Lactic acid)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 7200 uM
- Age
- Infant (0-1 year old)
- Sex
- Female
- Condition
- Combined oxidative phosphorylation deficiency 14
References
- Elo JM, Yadavalli SS, Euro L, Isohanni P, Gotz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A: Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet. 2012 Oct 15;21(20):4521-9. doi: 10.1093/hmg/dds294. Epub 2012 Jul 23. [PubMed:22833457 ]