| Metadata | |
|---|---|
| ID | DOID:14723 |
| Name | beta-ketothiolase 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238067002 |
| Subsets |
DO_rare_slim |
| Synonyms |
2-methyl-3-hydroxybutyricacidemia [EXACT] 3-ketothiolase deficiency [EXACT] 3-oxothiolase deficiency [EXACT] alpha-methylacetoaceticaciduria [EXACT] Mitochondrial acetoacetyl-CoA Thiolase deficiency [EXACT] peroxisomal thiolase deficiency [EXACT] |
| Parent Relationships |