Refsum Disease

**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.

**Tree numbers:** - 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

**Synonyms:** - Refsum's Disease - Refsum's Syndrome - Refsum-Thiebaut Syndrome - Refsum Syndrome