- Metabolite
- HMDB0000339 (2-Methylbutyrylglycine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.497-73.227 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Not Specified
- Condition
- 2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)
Comments
In children of 3-14 months old
References
- Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J: Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. [PubMed:12837870 ]