Porphyria, Hepatoerythropoietic
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.
Year introduced: 2005 (1993)
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Subheadings:
Tree Number(s): C06.552.830.437, C16.320.850.742.437, C17.800.827.742.437, C18.452.811.400.437
MeSH Unique ID: D017121
Entry Terms:
- Hepatoerythropoietic Porphyrias
- Porphyrias, Hepatoerythropoietic
- Hepatoerythropoietic Porphyria
- Porphyria, Erythrohepatic
- Erythrohepatic Porphyria
- Erythrohepatic Porphyrias
- Porphyrias, Erythrohepatic
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