Number of the records: 1  

porphyria variegata

  1. Record numberd046350
    Date06.06.2025
    TypeM - MESH
    Topical termporphyria variegata
    Other termEnglish (Pseudonym) Porphyria, South African Type
    Slovak (Pseudonym) porfýria, juhoafrický typ
    Slovak (Pseudonym) deficit protoporfyrinogén oxidázy
    Slovak (Pseudonym) deficit Ppox
    UDCC06.552.830.625C16.320.850.742.625C17.800.827.742.625C18.452.811.400.625
    NoteAn autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
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Number of the records: 1  

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