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MeSH Tree Location(s) for Porphyria, Hepatoerythropoietic

Scope Note:
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.

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Swedish MeSH

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MeSH Tree Location(s) for Porphyria, Hepatoerythropoietic

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