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.