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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 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:14723
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 30 | ACAA1 | acetyl-CoA acyltransferase 1 | |
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 39 | ACAT2 | acetyl-CoA acetyltransferase 2 | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 5019 | OXCT1 | 3-oxoacid CoA-transferase 1 | |
| 10449 | ACAA2 | acetyl-CoA acyltransferase 2 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002615 | Hypotension |
| HP:0002789 | Tachypnea |
| HP:0002919 | Ketonuria |
| HP:0003074 | Hyperglycemia |
| HP:0004372 | Reduced consciousness |
| HP:0007308 | Extrapyramidal dyskinesia |
| HP:0010864 | Intellectual disability, severe |
| HP:0011446 | Abnormality of mental function |
| HP:0012523 | Oral aversion |
| HP:0012705 | Abnormal metabolic brain imaging by MRS |
