- Metabolite
- HMDB0000339 (2-Methylbutyrylglycine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 5.682-21.308 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- 2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)
References
- Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000 Jun;47(6):830-3. [PubMed:10832746 ]