Porphyria, Congenital Erythropoietic

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Porphyria, Congenital Erythropoietic 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

  • CEP
  • Congenital Porphyria
  • Guenther Porphyria
  • Gunther Disease

Disorder Subdivisions

  • None

General Discussion

Congenital Erythropoietic Porphyria (CEP) is extremely rare and is inherited through an autosomal recessive trait. It is also known as Guenther Porphyria. The deficient enzyme is uroporphyrinogen III cosynthase. As is characteristic of the erythropoietic porphyrias, symptoms usually begin during infancy. CEP is manifested by markedly increased levels of porphyrins in bone marrow, red blood cells, plasma, urine and feces. Porphyrins are also deposited in the teeth and bones.

The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has.

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

The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are those characterized by sudden attacks of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition 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 this disorder. The symptoms and treatments of the different types of porphyrias are not the same.
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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

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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