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... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Polyneuropathies > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Nervous System Diseases > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Refsum Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Refsum Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Refsum Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Refsum Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders > Refsum Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders > Refsum Disease

Preferred term

Refsum Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Disease, Refsum's
  • Refsum's Disease
  • Refsums Disease
  • Refsum's Syndrome
  • Refsums Syndrome
  • Refsum Syndrome
  • Refsum Thiebaut Syndrome
  • Refsum-Thiebaut Syndrome
  • Refsum-Thiebaut Syndromes
  • Syndrome, Refsum
  • Syndrome, Refsum's
  • Syndrome, Refsum-Thiebaut
  • Syndromes, Refsum-Thiebaut

Note

  • do not confuse with REFSUM DISEASE, INFANTILE

Scope note

  • 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.

History note

  • 1996 (1964)

In other languages

  • Refsumin tauti

    Finnish

  • heredopathia atactica polyneuritiformis
  • morbus Refsum
  • Refsum
  • Refsums sjukdom
  • Refsums sjukdom

    Swedish

  • Heredopathia atactica polyneuritiformis
  • Refsum-Thiebauts syndrom
  • Refsums syndrom

URI

http://www.yso.fi/onto/mesh/D012035

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