ORPHA:2169

Methylcobalamin deficiency type cblE

Also called Functional methionine synthase deficiency type cblE

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:2169 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.