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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 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.
https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics
Xrefs

GARD:872

MESH:C535818

OMIM:203750

ORDO:134

SNOMEDCT_US_2020_09_01:238067002

UMLS_CUI:C1533628

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

is_a amino acid metabolic disorder

is_a autosomal recessive disease

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