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Up to: Autosomal recessive disease · Classic organic aciduria · Inborn disorder of ketolysis
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.
This condition has no sub-types.