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protoporfýria erytropoetická

  1. Subject h.protoporfýria erytropoetická
    Subject h.Protoporphyria, Erythropoietic
    Entry termsprotoporphyria erythropoetica
    English X referencesErythropoietic Protoporphyria
    Scope note in EnglishAn autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
    See also reference (FX) in Slovak ferochelatáza
    See also reference (FX) in English Ferrochelatase
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    (1) - MeSH descriptor
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