Refsum Disease
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.
Year introduced: 1996 (1964)
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Subheadings:
Tree 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
MeSH Unique ID: D012035
Entry Terms:
- Disease, Refsum
- Refsum's Disease
- Disease, Refsum's
- Refsums Disease
- Refsum's Syndrome
- Refsums Syndrome
- Syndrome, Refsum's
- Refsum-Thiebaut Syndrome
- Refsum Thiebaut Syndrome
- Refsum-Thiebaut Syndromes
- Syndrome, Refsum-Thiebaut
- Syndromes, Refsum-Thiebaut
- Refsum Syndrome
- Syndrome, Refsum
- Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
- Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency
- Refsum Disease, Phytanic Acid Oxidase Deficiency
- Hereditary Motor And Sensory Neuropathy IV
- HMSN 4
- HMSN IV
- HMSN IVs
- Hereditary Type IV Motor and Sensory Neuropathy
- Neuropathy, Hereditary Motor and Sensory, Type IV
- HMSN Type IV
- Hereditary Motor and Sensory Neuropathy Type IV
- Hereditary Motor and Sensory Neuropathy, Type IV
- Adult Refsum Disease
- Refsum Disease, Adult
- Adult Refsum Diseases
- Disease, Adult Refsum
- Diseases, Adult Refsum
- Refsum Diseases, Adult
- Classic Refsum Disease
- Refsum Disease, Classic
- Classic Refsum Diseases
- Disease, Classic Refsum
- Diseases, Classic Refsum
- Refsum Diseases, Classic
- Heredopathia Atactica Polyneuritiformis
- Polyneuritiformis, Heredopathia Atactica
- Hemeralopia Heredoataxia Polyneuritiformis
- Heredoataxia Polyneuritiformis, Hemeralopia
- Polyneuritiformis, Hemeralopia Heredoataxia
- Phytanic Acid Oxidase Deficiency
- Phytanic Acid Storage Disease