/methylmalonic aciduria and homocystinuria type cblD

methylmalonic aciduria and homocystinuria type cblD

Rare Disease

MONDO:0010185

Also Known As

cblD defectcobalamin D defectcobalamin D deficiencycobalamin d diseasecombined defect in adenosylcobalamin and methylcobalamin synthesis, type cblDmethylmalonic aciduria and homocystinuria type cblDmethylmalonic aciduria with homocystinuria, type cblDMAHCDcblD - cobalamin locus dcblD methylmalonic acidemia and homocystinuriahomocystinuria, cblD type, variant 1homocystinuria, cblD type, variant 1, includedm0e.321 cobalamin locus d variantmehtylmalonic acidemia with homocystinuria cbI dmethylmalonic acidemia and homocystinuria, cblD typemethylmalonic acidemia with homocystinuria type cblDmethylmalonic acidemia with homocystinuria, type cblDmethylmalonic acidemia, Cblh typemethylmalonic acidemia, Cblh type, formerlymethylmalonic aciduria and homocystinuria, cblD typemethylmalonic aciduria, Cblh typemethylmalonic aciduria, Cblh type, formerlymethylmalonic aciduria, cblD type, variant 2methylmalonic aciduria, cblD type, variant 2, included

Definition

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.