- Metabolite
- HMDB0000339 (2-Methylbutyrylglycine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 2-47.200 umol/mmol creatinine
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- 2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)
References
- Sass JO, Ensenauer R, Roschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Haberle J, Andresen BS, Megarbane A, Lehnert W, Zschocke J: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab. 2008 Jan;93(1):30-5. doi: 10.1016/j.ymgme.2007.09.002. Epub 2007 Oct 22. [PubMed:17945527 ]