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Refsumova choroba

  1. Record numberd012035
    Date06.06.2025
    TypeM
    Topical termRefsumova choroba
    Other termEnglish (Pseudonym) Heredopathia Atactica Polyneuritiformis
    English (Pseudonym) HMSN Type IV
    English (Pseudonym) Neuropathy, Hereditary Motor and Sensory, Type IV
    English (Pseudonym) Phytanic Acid Storage Disease
    Slovak (Pseudonym) HMSN, typ IV
    Slovak (Pseudonym) heredopathia atactica polyneuritiformis
    Slovak (Pseudonym) neuropatia dedičná motorická a senzorická, typ IV
    Slovak (Pseudonym) choroba z ukladania kyseliny fytánovej
    UDCC10.228.140.163.100.813C10.500.300.780C10.574.500.495.780C10.668.829.800.300.780C16.131.666.300.780C16.320.400.375.780C16.320.565.189.813C16.320.565.663.760C18.452.132.100.813C18.452.648.189.813C18.452.648.663.760
    NoteAn 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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