Porphyria, Acute Intermittent

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Porphyria, Acute Intermittent is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • AIP
  • Porphyriam Acute Intermittent
  • Porphyria, Swedish Type
  • Pyrroloporphyria

Disorder Subdivisions

  • None

General Discussion

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by deficiency of the enzyme porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. This enzyme deficiency results in the accumulation of porphyrins or porphyrin precursors in the body. These are natural chemicals that normally do not accumulate in the body. This enzyme deficiency by itself is not sufficient to produce symptoms of the disease (latent). Additional factors must also be present such as hormones, drugs and dietary changes that trigger the appearance of symptoms. Symptoms of AIP may include abdominal pain, constipation, and muscle weakness.

AIP is one of a group of disorders known as the porphyrias. The common feature in all porphyrias is the excess accumulation in the body of porphyrins or porphyrin precursors. Different types of porphyias are characterized by the accumulation of different types of porphyrin chemicals.

Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. In the hepatic types of porphyria, porphyrins and related substances originate in excess amounts from the liver; in the erythropoietic types, they originate mostly from the bone marrow.

The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological symptoms. These acute symptoms may be severe and often rapidly appear. An individual may be considered latent if he or she has the characteristic enzyme deficiency but has never developed symptoms. There can be a wide spectrum of severity between the latent and active cases of any particular type of porphyria. The symptoms and treatments of the different types of porphyrias are not the same.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

American Porphyria Foundation
4900 Woodway
Suite 780
Houston, TX 77056
Tel: (713)266-9617
Fax: (713)840-9552
Email: porphyrus@aol.com
Internet: http://www.porphyriafoundation.com

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Warner, Cecilia, M.D.
Division of Medical and Molecular Genetics
Mount Sinai School of Medicine
New York, NY 10029

MedicAlert Foundation International
2323 Colorado Avenue
Turlock, CA 95382
USA
Tel: (209)669-2401
Fax: (209)669-2456
Tel: (888)633-4298
Email: Inquiries@medicalert.org
Internet: http://www.medicalert.org

Canadian Association for Porphyria
P.O. Box 1206
Neepawa
Manitoba, Intl ROJ 1HO
Canada
Tel: (204)476-2800
Fax: (204)476-2801
Internet: http://www.cpf-inc.ca/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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