Beta-ketothiolase deficiency

Beta-ketothiolase (T2) deficiency is a rare 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 or toddlerhood and usually ceasing by adolescence.

Also known as: 3-ketothiolase deficiency, 3-oxothiolase deficiency, Alpha methylacetoacetic aciduria, Alpha-methyl-acetoacetyl-CoA thiolase deficiency, BKT, T2 deficiency, beta-ketothiolase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Beta-ketothiolase deficiency itself.