OBO ID: DOID:14723
Term Name: beta-ketothiolase deficiency Search Ontology:
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 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. https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics
References:
Ontology: Human Disease   (DOID:14723)
OTHER beta-ketothiolase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACAT1 Alpha-methylacetoacetic aciduria 203750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None