Structured Summary
Abstract
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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Classification
Broader headings
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Synonyms
7 entry terms
- Porphyria, Erythrohepatic
- Porphyria, Hepatoerythropoietic
- Erythrohepatic Porphyria
- Erythrohepatic Porphyrias
- Hepatoerythropoietic Porphyrias
- Porphyrias, Erythrohepatic
- Porphyrias, Hepatoerythropoietic
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Aspects Covered
35 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, congenital, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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Indexing Annotation
do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
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History Note
2005 (1993)
MeSH Record
Previous Indexing
- Porphyria (1966-1992)
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Tree Numbers
AMA Style
References
- National Library of Medicine. Hepatoerythropoietic Porphyria. Medical Subject Headings (MeSH). 2026. Unique ID D017121. http://id.nlm.nih.gov/mesh/2026/D017121
- Hepatoerythropoietic Porphyria. In: Wikipedia. https://en.wikipedia.org/wiki/Hepatoerythropoietic_porphyria
- Hepatoerythropoietic Porphyria. In: Wikidata. https://www.wikidata.org/wiki/Q390791