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beta-ketothiolase deficiency
Summary
- Synonym
-
- 2-methyl-3-hydroxybutyricacidemia
- 3-ketothiolase deficiency
- 3-oxothiolase deficiency
- Mitochondrial acetoacetyl-CoA Thiolase deficiency
- alpha-methylacetoaceticaciduria
- 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:14723
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P24752 | Acetyl-CoA acetyltransferase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000713 | Agitation |
| HP:0000741 | Apathy |
| HP:0000822 | Hypertension |
| HP:0000969 | Edema |
| HP:0000980 | Pallor |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
