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poruchy peroxizómové

  1. Subject h.poruchy peroxizómové
    Subject h.Peroxisomal Disorders
    Entry termsadrenoleukodystrofia novorodenecká
    adrenoleukodystrofia kongenitálna
    acidémia hyperpipekolická
    acidémia spôsobená kyselinou pipekolovou
    English X referencesAdrenoleukodystrophy, Neonatal
    Hyperpipecolic Acidemia
    Scope note in EnglishA heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
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