/methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Rare Disease

MONDO:0009612

Also Known As

methylmalonic acidemia due to methylmalonyl-CoA mutase deficiencymethylmalonic aciduria due to methylmalonyl-CoA mutase deficiencymethylmalonic aciduria mut typemethylmalonyl-CoA mutase deficiencymethylmalonyl-Coenzyme A mutase deficiencyvitamin B12-unresponsive methylmalonic aciduriaMCM deficiencymethylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiencymethylmalonic aciduria, mut typemethylmalonic aciduria, mut(-) typemethylmalonic aciduria, mut(0) typevitamin B12-unresponsive methylmalonic acidemia

Definition

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-.