obsolete methylmalonic acidemia without homocystinuria (obsolete MONDO:0017390)
methylmalonic acidemia without homocystinuria
exact
methylmalonic aciduria without homocystinuria
exact
OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.