Diseases

Acute Intermittent Porphyria

An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

41 entry terms
  • Acute Porphyria
  • Porphyria, Acute Intermittent
  • Acute Intermittent Porphyrias
  • Acute Porphyrias
  • Intermittent Porphyria, Acute
  • Intermittent Porphyrias, Acute
  • Porphyria, Acute
  • Porphyrias, Acute
  • Porphyrias, Acute Intermittent
  • Hydroxymethylbilane Synthase Deficiency
  • PBGD Deficiency
  • Porphobilinogen Deaminase Deficiency
  • Porphyria, Swedish Type
  • UPS Deficiency
  • Uroporphyrinogen Synthase Deficiency
  • Deaminase Deficiencies, Porphobilinogen
  • Deaminase Deficiency, Porphobilinogen
  • Deficiencies, Hydroxymethylbilane Synthase
  • Deficiencies, PBGD
  • Deficiencies, Porphobilinogen Deaminase
  • Deficiencies, UPS
  • Deficiencies, Uroporphyrinogen Synthase
  • Deficiency, Hydroxymethylbilane Synthase
  • Deficiency, PBGD
  • Deficiency, Porphobilinogen Deaminase
  • Deficiency, UPS
  • Deficiency, Uroporphyrinogen Synthase
  • Hydroxymethylbilane Synthase Deficiencies
  • PBGD Deficiencies
  • Porphobilinogen Deaminase Deficiencies
  • Porphyrias, Swedish Type
  • Swedish Type Porphyria
  • Swedish Type Porphyrias
  • Synthase Deficiencies, Hydroxymethylbilane
  • Synthase Deficiencies, Uroporphyrinogen
  • Synthase Deficiency, Hydroxymethylbilane
  • Synthase Deficiency, Uroporphyrinogen
  • Type Porphyria, Swedish
  • Type Porphyrias, Swedish
  • UPS Deficiencies
  • Uroporphyrinogen Synthase Deficiencies

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

History Note

1993

MeSH Record

Previous Indexing

  • Porphyria (1966-1992)

MeSH Hierarchy

Tree Numbers

  1. C06w.552w.830w.150w
  2. C16w.320w.850w.742w.150w
  3. C17.800w.827w.742w.150w
  4. C18.452w.811w.400w.150w

AMA Style

References

  1. National Library of Medicine. Acute Intermittent Porphyria. Medical Subject Headings (MeSH). 2026. Unique ID D017118. http://id.nlm.nih.gov/mesh/2026/D017118
  2. Acute Intermittent Porphyria. In: Wikipedia. https://en.wikipedia.org/wiki/Acute_intermittent_porphyria
  3. Acute Intermittent Porphyria. In: Wikidata. https://www.wikidata.org/wiki/Q424247