Search Ontology:
Human Disease

beta-ketothiolase deficiency

Term ID
DOID:14723
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. https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics
References
Ontology
Human Disease   ( DOID:14723 )
Relationships
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Genes Involved
Zebrafish Models