- Metabolite
- HMDB0003911 (3-Aminoisobutanoic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 30 +/- 6 uM
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- Methylmalonate semialdehyde dehydrogenase deficiency
References
- Pollitt RJ, Green A, Smith R: Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. J Inherit Metab Dis. 1985;8(2):75-9. [PubMed:3939535 ]