" /> Protoporphyria, erythropoietic, X-linked - CISMeF





Preferred Label : Protoporphyria, erythropoietic, X-linked;

Symbol : XLEPP;

CISMeF acronym : XLDPP; XLEPP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Erythrohepatic protoporphyria, X-linked; Protoporphyria, erythropoietic, X-linked dominant; XLDPP;

Description : X-linked erythropoietic protoporphyria (XLEPP) is a metabolic disorder of heme biosynthesis characterized by onset in early childhood of severe photosensitivity associated with decreased iron stores and increased erythrocyte zinc- and metal-free protoporphyrin. Some patients may develop liver disease or gallstones (summary by Ducamp et al., 2013). For a phenotypic description of erythropoietic protoporphyria, see 177000.;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the delta-aminolevulinate synthase 2 gene (ALAS2, 301300.0015);

Prefixed ID : #300752;

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31/07/2025


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