Acute Intermittent Porphyria
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Acute Intermittent Porphyria Overview

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Learn About Acute Intermittent Porphyria

What is the definition of Acute Intermittent Porphyria?
Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea.
What are the alternative names for Acute Intermittent Porphyria?
  • Acute intermittent porphyria
  • AIP
  • HMBS deficiency
  • Hydroxymethylbilane synthase deficiency
  • PBGD deficiency
  • Porphobilinogen deaminase deficiency
  • Porphyria, Swedish type
  • UPS deficiency
  • Uroporphyrinogen synthase deficiency
Who are the top Acute Intermittent Porphyria Local Doctors?
Elite in Acute Intermittent Porphyria
Eliane Sardh
Elite in Acute Intermittent Porphyria
Eliane Sardh

Karolinska Institutet

Stockholm, AB, SE 

Eliane Sardh practices in Stockholm, Sweden. Ms. Sardh is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. Her top areas of expertise are Acute Hepatic Porphyria (AHP), Acute Intermittent Porphyria, Porphyria, and Variegate Porphyria.

Elite in Acute Intermittent Porphyria
Pauline S. Harper
Elite in Acute Intermittent Porphyria
Pauline S. Harper

Karolinska Institutet

Stockholm, AB, SE 

Pauline Harper practices in Stockholm, Sweden. Ms. Harper is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. Her top areas of expertise are Acute Intermittent Porphyria, Porphyria, Acute Hepatic Porphyria (AHP), and Variegate Porphyria.

 
 
 
 
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Elite in Acute Intermittent Porphyria
Antonio Fontanellas
Elite in Acute Intermittent Porphyria
Antonio Fontanellas
Pamplona, NC, ES 

Antonio Fontanellas practices in Pamplona, Spain. Mr. Fontanellas is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. His top areas of expertise are Acute Intermittent Porphyria, Porphyria, Type B Insulin Resistance Syndrome, and Urea Cycle Disorders (UCD).

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What are the latest Acute Intermittent Porphyria Clinical Trials?
Longitudinal Study of the Porphyrias
Longitudinal Study of the Porphyrias
Enrollment Status: Recruiting
Publish Date: January 15, 2026

Summary: The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

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Identification of Acute Intermittent Porphyria Modifying Genes
Identification of Acute Intermittent Porphyria Modifying Genes
Enrollment Status: Recruiting
Publish Date: August 28, 2025

Summary: This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center