ORPHA:622

Homocystinuria without methylmalonic aciduria

Also called Functional methionine synthase deficiency, Methylcobalamin deficiency

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