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MeSH Tree Location(s) for Protoporphyria, Erythropoietic

Scope Note:
An 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: Ferrochelatase

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Swedish MeSH

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MeSH Tree Location(s) for Protoporphyria, Erythropoietic

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