Accession Number | HMDB00023 |
Common_Name | (S)-3-Hydroxyisobutyric acid |
Description | (S)-3-Hydroxyisobutyric (3-HIBA) acid is an organic acid. 3-HIBA is an intermediate in the metabolic pathways of L-valine and L-thymine amino acids. 3-HIBA plays an important role in the diagnosis of the very rare inherited metabolic diseases 3-hydroxyisobutyric aciduria (OMIM 236795) and methylmalonic semialdehyde dehydrogenase deficiency (OMIM 603178). Patients with 3-hydroxyisobutyric aciduria excrete a significant amount of 3-HIBA not only during the acute stage but also when stable. The deficient enzyme in 3HiB-uria remains unclear. The severity of this disease varies from case to case. Most patients exhibit dysmorphic features, such as a small triangular face, a long philtrum, low set ears and micrognathia (PMID: 113770040, 10686279) |
Chemical_IUPAC_Name | 3-hydroxy-2-methylpropanoic acid |
Chemical Formula | C4H8O3 |
Sample Concentration | Not Available |
Mass Value | Not Available |
Mass Unit | mg |
Manufacturer | Quattro_QQQ |
Analyzer | Triple_Quad |
Delivery | Flow_Injection |
Ionization | Negative |
Predicted 1H NMR Spectrum | Download |
Predicted 1H NMR Peaklist | Download |
Predicted 13C NMR Spectrum | Download |
Predicted 13C NMR Peaklist | Download |
Sample Concentration | Not Available |
Mass Value | Not Available |
Mass Unit | Not Available |
Manufacturer | Not Available |
Frequency | Not Available |
1H NMR Spectrum | Not Available |
Sample Concentration | Not Available |
Mass Value | Not Available |
Mass Unit | Not Available |
Manufacturer | Not Available |
Frequency | Not Available |
13C NMR Spectrum | Not Available |
Low Energy Voltage | 10 |
Low Energy Spectrum | Download |
Low Energy Peaklist | Download |
Medium Energy Spectrum | Download |
High Energy Spectrum | Download |