- Metabolite
- HMDB0000190 (Lactic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 2400-4300 uM
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- 3-Hydroxyisobutyryl-coa hydrolase deficiency
References
- Reuter MS, Sass JO, Leis T, Kohler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bahr L, Trollmann R, Uebe S, Ekici AB, Reis A: HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766. Epub 2014 Sep 23. [PubMed:25251209 ]