Introduction Pocket Metab Impressum
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(S)-3-Hydroxyisobutyric acid
(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)
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  1. KETOSIS, UNSPECIFIC [DD]
  2. CYSTINOSIS
  3. MUCOLIPIDOSIS II
  4. 3-HYDROXYISOBUTYRIC ACIDURIA
  5. METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de
Last update 29.12.2009 07:05:52