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Beta-ketothiolase deficiency

Disease definition

A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.

ORPHA:134

Classification level: Disorder
  • Synonym(s):
    • 3-ketothiolase deficiency
    • 3-oxothiolase deficiency
    • Alpha methylacetoacetic aciduria
    • Alpha-methyl-acetoacetyl-CoA thiolase deficiency
    • Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
    • T2 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E71.1
  • OMIM: 203750
  • UMLS: C1536500
  • MeSH: -
  • GARD: 872
  • MedDRA: -
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