Number of the records: 1  

Refsumova choroba

  1. Subject h.Refsumova choroba
    Subject h.Refsum Disease
    Entry termsHMSN, typ IV
    heredopathia atactica polyneuritiformis
    neuropatia dedičná motorická a senzorická, typ IV
    choroba z ukladania kyseliny fytánovej
    English X referencesHMSN Type IV
    Heredopathia Atactica Polyneuritiformis
    Neuropathy, Hereditary Motor and Sensory, Type IV
    Phytanic Acid Storage Disease
    Scope note in EnglishAn 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.
    Links (2) - ARTICLES
    (1) - CiBaMed
    (1) - BOOKS
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all