- Metabolite
- HMDB0000354 (2-Methyl-3-hydroxybutyric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 441 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Not Available
- Condition
- Beta-ketothiolase deficiency
References
- Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M: Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. [PubMed:25689098 ]