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Refsum Disease

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

Year introduced: 1996 (1964)

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Tree Number(s): C10., C10.500.300.780, C10.574.500.495.780, C10.668.829.800.300.780, C16.131.666.300.780, C16.320.400.375.780, C16.320.565.189.813, C16.320.565.663.760, C18.452.132.100.813, C18.452.648.189.813, C18.452.648.663.760

MeSH Unique ID: D012035

Entry Terms:

  • Disease, Refsum
  • Hereditary Motor and Sensory Neuropathy Type IV
  • Refsum Disease, Adult
  • Adult Refsum Diseases
  • Disease, Adult Refsum
  • Diseases, Adult Refsum
  • Refsum Diseases, Adult
  • Phytanic Acid Oxidase Deficiency
  • HMSN IVs
  • Hereditary Motor And Sensory Neuropathy IV
  • Hereditary Type IV Motor and Sensory Neuropathy
  • Neuropathy, Hereditary Motor and Sensory, Type IV
  • Heredopathia Atactica Polyneuritiformis
  • Polyneuritiformis, Heredopathia Atactica
  • HMSN Type IV
  • Refsum's Disease
  • Disease, Refsum's
  • Refsums Disease
  • Refsum's Syndrome
  • Refsums Syndrome
  • Syndrome, Refsum's
  • Phytanic Acid Storage Disease
  • Hemeralopia Heredoataxia Polyneuritiformis
  • Heredoataxia Polyneuritiformis, Hemeralopia
  • Polyneuritiformis, Hemeralopia Heredoataxia
  • Refsum-Thiebaut Syndrome
  • Refsum Thiebaut Syndrome
  • Refsum-Thiebaut Syndromes
  • Syndrome, Refsum-Thiebaut
  • Syndromes, Refsum-Thiebaut
  • Hereditary Motor and Sensory Neuropathy, Type IV
  • Adult Refsum Disease
  • Classic Refsum Disease
  • Refsum Syndrome
  • Syndrome, Refsum
  • HMSN 4
  • Refsum Disease, Classic
  • Classic Refsum Diseases
  • Disease, Classic Refsum
  • Diseases, Classic Refsum
  • Refsum Diseases, Classic
  • Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
  • Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency
  • Refsum Disease, Phytanic Acid Oxidase Deficiency

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