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Refsum disease

Disease definition

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa (see this term) and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

ORPHA:773

  • Synonym(s):
    • Adult Refsum disease
    • Classic Refsum disease
    • HMSN 4
    • Hereditary motor and sensory neuropathy type 4
    • Heredopathia atactica polyneuritiformis
    • Phytanic-CoA hydroxylase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult, Infancy
  • ICD-10: G60.1
  • OMIM: 266500  614879
  • UMLS: C0034960
  • MeSH: D012035
  • GARD: 5691
  • MedDRA: 10038275

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