Diseases

Porphyrias

A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

MeSH Record

Classification

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See Also

MeSH Record

Synonyms

5 entry terms
  • Porphyria
  • Porphyrin Disorder
  • Disorder, Porphyrin
  • Disorders, Porphyrin
  • Porphyrin Disorders

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

Indexing Annotation

general or unspecified: prefer specifics

MeSH Record

History Note

2005 (1963)

MeSH Hierarchy

Tree Number

MeSH Record

NLM Classification

QU 260.5.P6

AMA Style

References

  1. National Library of Medicine. Porphyrias. Medical Subject Headings (MeSH). 2026. Unique ID D011164. http://id.nlm.nih.gov/mesh/2026/D011164
  2. Porphyrias. In: Wikipedia. https://en.wikipedia.org/wiki/Porphyria
  3. Porphyrias. In: Wikidata. https://www.wikidata.org/wiki/Q271759