Refsum Disease

Overview

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Is a:

Disease or Syndrome

Definition:

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.

Synonyms:

Hemeralopia Heredoataxia Polyneuritiformis
Hereditary Motor and Sensory Neuropathy, Type IV
Hereditary Type IV Motor and Sensory Neuropathy
Heredoataxia Polyneuritiformis, Hemeralopia
Heredopathia Atactica Polyneuritiformis
HMSN Type IV
Neuropathy, Hereditary Motor and Sensory, Type IV
Phytanic Acid Storage Disease
Polyneuritiformis, Hemeralopia Heredoataxia
Polyneuritiformis, Heredopathia Atactica
Refsum Disease, Phytanic Acid Oxidase Deficiency
Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Syndrome
Refsum Thiebaut Syndrome
Refsum's Disease
Refsum's Syndrome
Refsum-Thiebaut Syndrome
Refsums Disease
Refsums Syndrome
Syndrome, Refsum's
Syndrome, Refsum-Thiebaut

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