beta-ketothiolase deficiency (DOID:14723)
Alliance: disease page
Synonyms: 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; Mitochondrial acetoacetyl-CoA Thiolase deficiency; peroxisomal thiolase deficiency
Alt IDs: OMIM:203750, MESH:C535818, ORDO:134, UMLS_CUI:C1533628
Definition: An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.