Diseases

Erythropoietic Protoporphyria

An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

14 entry terms
  • Erythrohepatic Protoporphyria
  • Protoporphyria, Erythropoietic
  • Erythropoietic Protoporphyrias
  • Protoporphyrias, Erythropoietic
  • Ferrochelatase Deficiency
  • Heme Synthetase Deficiency
  • Deficiencies, Ferrochelatase
  • Deficiencies, Heme Synthetase
  • Deficiency, Ferrochelatase
  • Deficiency, Heme Synthetase
  • Ferrochelatase Deficiencies
  • Heme Synthetase Deficiencies
  • Synthetase Deficiencies, Heme
  • Synthetase Deficiency, Heme

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, 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.

MeSH Record

Indexing Annotation

do not confuse with PORPHYRIA, ERYTHROPOIETIC

MeSH Record

History Note

2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004

MeSH Record

Previous Indexing

  • Porphyria (1965-2004)
  • Porphyria, Erythrohepatic (1993-2004)

MeSH Hierarchy

Tree Numbers

  1. C06w.552w.830w.812w
  2. C16w.320w.850w.742w.812w
  3. C17.800w.827w.742w.812w
  4. C18.452w.811w.400w.812w

AMA Style

References

  1. National Library of Medicine. Erythropoietic Protoporphyria. Medical Subject Headings (MeSH). 2026. Unique ID D046351. http://id.nlm.nih.gov/mesh/2026/D046351
  2. Erythropoietic Protoporphyria. In: Wikipedia. https://en.wikipedia.org/wiki/Erythropoietic_protoporphyria
  3. Erythropoietic Protoporphyria. In: Wikidata. https://www.wikidata.org/wiki/Q1759600