Beta-ketothiolase deficiency

What is Beta-ketothiolase deficiency?

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.

Other condition names

  • 3-ketothiolase deficiency
  • 3-oxothiolase deficiency
  • Alpha methylacetoacetic aciduria
  • Alpha-methyl-acetoacetyl-CoA thiolase deficiency
  • Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
  • T2 deficiency

Inheritance type

Autosomal recessive


  • Worldwide: Unknown

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
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