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Summary Literature (0)
DOID:14723 - beta-ketothiolase deficiency


Disease Ontology 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.

Synonyms: 2-methyl-3-hydroxybutyricacidemia, 3-ketothiolase deficiency, 3-oxothiolase deficiency, Mitochondrial acetoacetyl-CoA Thiolase deficiency, alpha-methylacetoaceticaciduria, peroxisomal thiolase deficiency, peroxisomal thiolase deficiency (disorder)

In OMIM:
OMIM:203750 - ALPHA-METHYLACETOACETIC ACIDURIA

In Mondo Disease Ontology:
MONDO:0008760 - beta-ketothiolase deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : acat1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)