ORPHA:79283

Methylmalonic acidemia with homocystinuria, type cblD

Also called CblD defect, Cobalamin D defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, Methylmalonic aciduria with homocystinuria, type cblD

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

All ages

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79283 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.