34 top medical experts on Hepatoerythropoietic Porphyria across 5 countries and 2 U.S. states, including 5 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Hepatoerythropoietic Porphyria: 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.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Hepatic Porphyrias (226).
- Synonyms: Erythrohepatic Porphyria
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