Acute Intermittent Porphyria

Common Name(s)

Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PGBD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PGBD 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. Treatment is dependent on the symptoms.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acute Intermittent Porphyria" for support, advocacy or research.

American Porphyria Foundation

The mission of the American Porphyria Foundation is to enhance awareness and education about the Porphyrias and to aid in advancing treatment of this group of disorders.

Last Updated: 2 Dec 2009

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Acute Intermittent Porphyria" for support, advocacy or research.

American Porphyria Foundation

The mission of the American Porphyria Foundation is to enhance awareness and education about the Porphyrias and to aid in advancing treatment of this group of disorders.

http://www.porphyriafoundation.com

Last Updated: 2 Dec 2009

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Acute Intermittent Porphyria" returned 160 free, full-text research articles on human participants. First 3 results:

A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.
 

Author(s): Huang Jiao, Zhang Xianfeng, Han Hui, , Zhan Yuhong, Zhang Chu

Journal: J Pak Med Assoc. 2015 Aug;65(8):898-900.

 

Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, ...

Last Updated: 3 Aug 2015

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Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients.
 

Author(s): Antonia M Jiménez-Monreal, M Antonia Murcia, Victoria Gómez-Murcia, Maria Del Mar Bibiloni, Antoni Pons, Josep A Tur, Magdalena Martínez-Tomé

Journal: Medicine (Baltimore). 2015 Jul;94(30):e1023.

 

The porphyrias are a group of rare metabolic disorders. The incidence and prevalence are low because the acute intermittent porphyria (AIP) is rare. Our aim was to assess the use of anthropometric and quality-of-life parameters in porphyric patients in order to identify predictor ...

Last Updated: 30 Jul 2015

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Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist.
 

Author(s): Tao Yuan, Yu-Hui Li, Xi Wang, Feng-Ying Gong, Xue-Yan Wu, Yong Fu, Wei-Gang Zhao

Journal: Chin. Med. J.. 2015 Jul;128(14):1980-1.

 

Last Updated: 14 Jul 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Acute Intermittent Porphyria" returned 3 free, full-text review articles on human participants. First 3 results:

[Acute intermittent porphyria presenting as spontaneous hemothorax].
 

Author(s): Juliana Buitrago, Sandra Viviana Santa

Journal: Biomedica. 2009 Sep;29(3):339-47.

 

The porphyrias are inherited disorders of the heme biosynthetic pathway. They are relatively rare and often misdiagnosed; however, acute episodes can be curtailed by early administration of heme arginate. Acute intermittent porphyria is the commonest of acute forms of porphyria. Here, ...

Last Updated: 3 May 2010

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May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
 

Author(s): M Hrdinka, H Puy, P Martasek

Journal: Physiol Res. 2006 ;55 Suppl 2():S119-36.

 

Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations ...

Last Updated: 14 Feb 2007

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The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
 

Author(s): P D Brownlie, R Lambert, G V Louie, P M Jordan, T L Blundell, M J Warren, J B Cooper, S P Wood

Journal: Protein Sci.. 1994 Oct;3(10):1644-50.

 

Mutations in the human gene for the enzyme porphobilinogen deaminase give rise to an inherited disease of heme biosynthesis, acute intermittent porphyria. Knowledge of the 3-dimensional structure of human porphobilinogen deaminase, based on the structure of the bacterial enzyme, allows ...

Last Updated: 13 Mar 1995

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)
 

Status: Not yet recruiting

Condition Summary: Acute Intermittent Porphyria

 

Last Updated: 8 Jun 2012

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A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)
 

Status: Recruiting

Condition Summary: Acute Intermittent Porphyria

 

Last Updated: 4 Feb 2016

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Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

Condition Summary: Hereditary Coproporphyria (HCP); Acute Intermittent Porphyria (AIP); Variegate Porphyria (VP)

 

Last Updated: 23 Sep 2013

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