Porphyria, Hepatoerythropoietic

Overview

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.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Porphyria, Hepatoerythropoietic

Topic type

Condition

Category

Dermatology

MeSH classification

C06.552.830.437|C16.320.850.742.437|C17.800.827.742.437|C18.452.811.400.437

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