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poruchy peroxizómové

  1. Record numberd018901
    Date06.06.2025
    TypeM
    Topical termporuchy peroxizómové
    Other termEnglish (Pseudonym) Adrenoleukodystrophy, Neonatal
    English (Pseudonym) Hyperpipecolic Acidemia
    Slovak (Pseudonym) adrenoleukodystrofia novorodenecká
    Slovak (Pseudonym) adrenoleukodystrofia kongenitálna
    Slovak (Pseudonym) acidémia hyperpipekolická
    Slovak (Pseudonym) acidémia spôsobená kyselinou pipekolovou
    See also(Later heading) peroxizómy
    UDCC16.320.565.663C18.452.648.663
    NoteA 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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Number of the records: 1  

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