|OBO ID: DOID:14723|
|Term Name:||beta-ketothiolase deficiency||Search 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. https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics|
|Ontology:||Human Disease (DOID:14723)|
|is a type of:||
OTHER beta-ketothiolase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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