- Metabolite
- HMDB0059655 (2-Hydroxyglutarate)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 113 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
References
- Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13. [PubMed:22579592 ]