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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019215
classic organic aciduria
is_a
MONDO:0019229
inborn disorder of ketolysis
is_a
3-ketothiolase deficiency
exact
3-oxothiolase deficiency
exact
Alpha methylacetoacetic aciduria
exact
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
exact
BKT
exact
Beta ketothiolase deficiency
related
T2 deficiency
exact
beta-ketothiolase deficiency
exact
mitochondrial acetoacetyl-CoA thiolase deficiency
exact
mitochondrial acetoacetyl-coenzyme A thiolase deficiency
exact
SPBC215.09c