Term Name: | beta-ketothiolase deficiency |
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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 ) |