Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblD
Definition
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
Also known as cblD defect, cobalamin D defect, cobalamin d disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, methylmalonic aciduria and homocystinuria type cblD, methylmalonic aciduria with homocystinuria, type cblD — per MONDO