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 practicing medicine in Stockholm, Sweden. Ms. Sardh is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Acute Intermittent Porphyria, Acute Hepatic Porphyria (AHP), 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 practicing medicine in Stockholm, Sweden. Ms. Harper is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Acute Intermittent Porphyria, Porphyria, Acute Hepatic Porphyria (AHP), and Variegate Porphyria.

 
 
 
 
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Elite in Acute Intermittent Porphyria
Ulrich Stolzel
Elite in Acute Intermittent Porphyria
Ulrich Stolzel
Chemnitz, SN, DE 

Ulrich Stolzel practices practicing medicine in Chemnitz, Germany. Mr. Stolzel is rated as an Elite expert by MediFind in the treatment of Acute Intermittent Porphyria. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Acute Hepatic Porphyria (AHP), Porphyria, Acute Intermittent Porphyria, Hereditary Coproporphyria, and Liver Transplant.

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What are the latest Acute Intermittent Porphyria Clinical Trials?
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
Enrollment Status: Recruiting
Publish Date: March 27, 2026
Intervention Type: Other
Study Phase: Not Applicable

Summary: The main aim of this clinical trial is to learn about the effect of carbohydrate-rich diet as a treatment for AIP (acute intermittent porphyria). Aim: Investigate the diet's impact on tissue and serum glucose, plasma insulin, cytokine levels, amino acids, and gut microbiota in AIP, and their correlation with PBG (Porphobilinogen). Aim: Assess the diet's effect on AIP symptoms and health status in ...

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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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Who are the sources who wrote this article ?

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