Porphyria, Congenital Erythropoietic
National Organization for Rare Disorders, Inc.
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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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
American Porphyria Foundation
Houston, TX 77056
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Canadian Association for Porphyria
P.O. Box 1206
Manitoba, Intl ROJ 1HO
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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