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
Displaying all 7 entries
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
The Human Phenotype Ontology
Displaying entries 21 - 30 of 44 in total
HPO ID HPO Term
HP:0001945 Fever
HP:0001974 Leukocytosis
HP:0001987 Hyperammonemia
HP:0001993 Ketoacidosis
HP:0002013 Vomiting
HP:0002014 Diarrhea
HP:0002039 Anorexia
HP:0002149 Hyperuricemia
HP:0002151 Increased circulating lactate concentration
HP:0002240 Hepatomegaly
Displaying 1 entry
Gene ID Gene Symbol Description
38 ACAT1 acetyl-CoA acetyltransferase 1

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Last updated: August 19, 2024