Refsum disease

What is Refsum disease?

A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

Other condition names

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

Inheritance type

Autosomal recessive


  • Europe: 1-9 in 1,000 000

Age of Onset

  • Adolescent
  • Adult
  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.