Number of the records: 1  

porfýria hepatoerytropoetická

  1. Subject h.porfýria hepatoerytropoetická
    Subject h.Porphyria, Hepatoerythropoietic
    Entry termsporfýria erytrohepatálna
    English X referencesHepatoerythropoietic Porphyria
    Porphyria, Erythrohepatic
    Scope note in EnglishAn autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
    Links (1) - ARTICLES
    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