Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Porphyria, Congenital Erythropoietic


Synonyms of Porphyria, Congenital Erythropoietic
  • CEP
  • Congenital Porphyria
  • Guenther Porphyria
  • Gunther Disease

Disorder Subdivisions



    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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    Organizations related to Porphyria, Congenital Erythropoietic
    • American Porphyria Foundation
      4900 Woodway
      Houston TX 77056
      Phone #: 713-266-9617
      800 #: --
      e-mail: porphyrus@aol.com
      Home page: http://www.porphyriafoundation.com
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Canadian Association for Porphyria
      P.O. Box 1206
      Manitoba Intl ROJ 1HO
      Phone #: (20-4)4-76-2800
      800 #: N/A
      e-mail: N/A
      Home page: http://www.cpf-inc.ca/
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov



    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