ORPHA:773

Adult Refsum disease

Also called Classic Refsum disease, HMSN 4, HMSN IV, Hereditary motor and sensory neuropathy type 4, Hereditary motor and sensory neuropathy type IV, Heredopathia atactica polyneuritiformis, Phytanic-CoA hydroxylase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Adolescent, Adult, Childhood

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:773 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.