Protoporphyria

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

EPP (erythropoietic protoporphyria porphyria), erythrohepatic protoporphyria, erythropoietic protoporphyria, erythropoietic protoporphyria porphyria

Broader Terms

genetic disorder, porphyria

Related Terms

autosomal dominant trait, nonvisual photosensitivity

Scope Note

autosomal dominant disorder due to partial deficiency of ferrochelatase, characterized by an excess of protoporphyrin and a wide variety of photosensitive skin changes.

Facts (generated by robot; please edit if you find it inaccurate)

• Erythropoietic Protoporphyria Important It is possible that the main title of the report Erythropoietic Protoporphyria is not the name you expected.
• A retrospective diagnosis of erythropoietic protoporphyria is considered.
• Protoporphyria is generally inherited as an autosomal dominant disorder.
• Incidence The prevalence of erythropoietic protoporphyria is not fully known.
• Hepatic protoporphyria is associated with a decrease in ligand binding for the mitochondrial benzodiazepine receptors in the liver.

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