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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
Prevalence
- Worldwide: Unknown
Age of Onset
- Childhood
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.