methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.
MONDO:0002012
methylmalonic acidemia
is_a
MONDO:0019215
classic organic aciduria
is_a
MCM deficiency
related
methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
exact
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
exact
methylmalonyl-CoA mutase deficiency
exact
methylmalonyl-Coenzyme A mutase deficiency
exact
vitamin B12-unresponsive methylmalonic aciduria
exact