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