Term Name:	beta-ketothiolase deficiency
Synonyms:	2-methyl-3-hydroxybutyricacidemia, 3-ketothiolase deficiency, 3-oxothiolase deficiency, alpha-methylacetoaceticaciduria, Mitochondrial acetoacetyl-CoA Thiolase deficiency, peroxisomal thiolase deficiency
Definition:	An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, 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.
Ontology:	Human Disease [DOID:14723]   ( DOID:14723 )