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. [ url:https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics http://purl.obolibrary.org/obo/ECO_0007637 ]
Synonyms: 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency 2-methyl-3-hydroxybutyricacidemia alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency
Term information
- GARD:872
- SNOMEDCT_US_2023_03_01:238067002
- MIM:203750
- MESH:C535818
- UMLS_CUI:C1533628
- ORDO:134
DO_rare_slim
Term relations
- autosomal recessive disease
- amino acid metabolic disorder
- has symptom some lethargy
- has material basis in some autosomal recessive inheritance
- has symptom some seizure
- has symptom some vomiting
- has symptom some dehydration