- Metabolite
- HMDB0012141 ((R)-2,3-Dihydroxy-isovalerate)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 566-704 umol/mmol creatinine
- Age
- Children (1-13 years old)
- Sex
- Female
- Condition
- 3-Hydroxyisobutyryl-coa hydrolase deficiency
References
- Peters H, Ferdinandusse S, Ruiter JP, Wanders RJ, Boneh A, Pitt J: Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. Mol Genet Metab. 2015 Aug;115(4):168-73. doi: 10.1016/j.ymgme.2015.06.008. Epub 2015 Jun 24. [PubMed:26163321 ]