Refsum disease

external

• Synonyms

  • Refsum syndrome
  • Phytanic acid storage disease

• Causes

  • PEX7 gene mutation

• Effects

  • Metabolic neuropathy
  • Retinitis pigmentosa
  • Cerebellar ataxia
  • Congenital deafness
  • Ichthyosis
  • Anosmia
  • Elevated protein in CSF
  • Raised phytanic acid
  • Dislocation of lens

• Parents

  • Leukodystrophy
  • Autosomal recessive congenital metabolic disease

• Description

  • "PEX7 gene mutation"