Adult Refsum Diseases

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.