Orphanet: Refsum disease

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Refsum disease

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Adult Refsum disease
    • 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
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G60.1
  • OMIM: 266500  614879
  • UMLS: C0034960
  • MeSH: D012035
  • GARD: 5691
  • MedDRA: 10038275

Detailed information

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