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.

Descriptor ID	D012035
MeSH Number(s)	C10.228.140.163.100.813 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
Concept/Terms	Refsum Disease Refsum Disease 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 IV 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, Phytanoyl CoA Hydroxylase Deficiency Refsum Disease, Phytanic Acid Oxidase Deficiency

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