- Metabolite
- HMDB0000622 (Ethylmalonic acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 2.567-10.269 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Both
- Condition
- Isobutyryl-CoA Dehydrogenase Deficiency
References
- Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D: Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097GIM.0b013e31802f78d6. [PubMed:17304052 ]