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.


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