ORPHA:79284

Methylmalonic acidemia with homocystinuria type cblF

Also called CblF defect, Cobalamin F defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, Lysosomal membrane cobalamin transporter deficiency, Methylmalonic aciduria with homocystinuria, type cblF

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Childhood

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79284 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.