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| Term | beta-ketothiolase deficiency | ID (Ontology) | DOID:14723 (Human Disease) |
| 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. | ||
| Also Known As | "2-methyl-3-hydroxybutyricacidemia" ; "3-ketothiolase deficiency" ; "3-oxothiolase deficiency" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease____ inherited metabolic disorder | |__amino acid metabolic disorder__| beta-ketothiolase deficiency 1 rec. |
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| Is a |
autosomal recessive disease amino acid metabolic disorder |
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External Crossreferences & Linkouts
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GARD:872 MESH:C535818 MIM:203750 ORDO:134 SNOMEDCT_US_2023_03_01:238067002 UMLS_CUI:C1533628 |
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