/methylmalonic aciduria and homocystinuria type cblC

methylmalonic aciduria and homocystinuria type cblC

Rare Disease

MONDO:0010184

Also Known As

cblC defectcobalamin C defectcobalamin C deficiencycobalamin c diseasecombined defect in adenosylcobalamin and methylcobalamin synthesis, type cblCmethylmalonic aciduria and homocystinuria type cblCmethylmalonic aciduria with homocystinuria, type cblCMAHCCcblCcblC - cobalamin locus ccblC methylmalonic acidemia and homocystinuriacobalamin locus c variantmethylmalonic acidemia and homocystinuria cblCmethylmalonic acidemia and homocystinuria, cblC typemethylmalonic acidemia with homocystinuria type cblCmethylmalonic acidemia with homocystinuria, type cblCmethylmalonic aciduria and homocystinuria cblCmethylmalonic aciduria and homocystinuria, cblC typemethylmalonic aciduria and homocystinuria, cblC type, digenicmethylmalonic aciduria and homocystinuria, vitamin B12-responsivevitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase

Definition

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.