- Metabolite
- HMDB0000622 (Ethylmalonic acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 38 umol/mmol creatinine
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
References
- Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA: Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704. [PubMed:9337379 ]