Diseases

Variegate Porphyria

An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.

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Classification

Broader headings

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MeSH Record

Synonyms

8 entry terms
  • Porphyria Variegata
  • Porphyria Variegate
  • Porphyria, South African Type
  • Porphyria, Variegate
  • Ppox Deficiency
  • Protoporphyrinogen Oxidase Deficiency
  • Deficiency, Ppox
  • Ppox Deficiencies

MeSH Record

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.

MeSH Record

History Note

2005; use PORPHYRIA, HEPATIC 1993-2004

MeSH Record

Previous Indexing

  • Porphyria (1964-2004)
  • Porphyria, Hepatic (1993-2004)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Variegate Porphyria. Medical Subject Headings (MeSH). 2026. Unique ID D046350. http://id.nlm.nih.gov/mesh/2026/D046350
  2. Variegate Porphyria. In: Wikipedia. https://en.wikipedia.org/wiki/Variegate_porphyria
  3. Variegate Porphyria. In: Wikidata. https://www.wikidata.org/wiki/Q275385