beta-ketothiolase deficiency

Term ID

DOID:14723

Synonyms

• 2-methyl-3-hydroxybutyricacidemia
• 3-ketothiolase deficiency
• 3-oxothiolase deficiency
• alpha-methylacetoaceticaciduria
• Mitochondrial acetoacetyl-CoA Thiolase deficiency
• 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. https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics

References

• GARD:872
• MESH:C535818
• OMIM:203750
• ORDO:134
• SNOMEDCT_US_2023_03_01:238067002
• UMLS_CUI:C1533628

Ontology

Human Disease   ( DOID:14723 )