X-linked erythropoietic protoporphyria

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X-linked erythropoietic protoporphyria

Synonyms: X-linked dominant erythropoietic protoporphyria | X-linked dominant protoporphyria | XLDPP | XLPP

A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males presenting as tingling burning and itching within minutes of light exposure often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc- and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023

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X-linked erythropoietic protoporphyria?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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