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Pathway Description
Congenital Erythropoietic Porphyria (CEP) or Gunther Disease
Homo sapiens
Disease Pathway
Congenital Erythropoietic Porphyria (CEP), also known as Gunther Disease, uroporphyrinogen III synthase defiency or UROS deficiency, is a rare autosomal recessive rare inborn error of metabolism (IEM). It is a disorder of the porphyrin metabolism pathway caused by a mutation in the UROS gene which encodes for uroporphyrinogen-III synthase. This enzyme catalyzes the dehydrogenation of hydroxymethylbilane into water and uroporphyrinogen III, which will undergo several more reactions to eventually form heme. This disorder is characterized by a large accumulation of porphyrins in the feces, urine and plasma, as well as in bones and teeth, potentially giving them a darkened or red appearance. Symptoms of this disorder include sensitivity to light, leading to potential skin damage as children, which can then lead to severe deformities. Red urine and teeth can also be seen in infancy. Treatment of CEP includes limiting or eliminating exposure to the sun, blood transfusions, and potentially bone marrow transplants or stem cell treatment. It is estimated that CEP affects less than 1 in 1,000,000 individuals.
References
Congenital Erythropoietic Porphyria (CEP) or Gunther Disease References
[Uniprot: P10746](http://www.uniprot.org/uniprot/P10746)
[OMIM: Entry 263700](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263700)
Kappas, A.; Sassa, S.; Anderson, K. E. The porphyrias. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S.: The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (5th ed.) (1983) p.1301-1384.
Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ: Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Am J Hum Genet. 2006 Apr;78(4):645-58. doi: 10.1086/502667. Epub 2006 Feb 9.
Pubmed: 16532394
Desnick RJ, Astrin KH: Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun;117(4):779-95.
Pubmed: 12060112
Xu W, Astrin KH, Desnick RJ: Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Hum Mutat. 1996;7(3):187-92. doi: 10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8.
Pubmed: 8829650
Erwin A, Balwani M, Desnick RJ: Congenital Erythropoietic Porphyria
Pubmed: 24027798
Ged C, Mendez M, Robert E, Lalanne M, Lamrissi-Garcia I, Costet P, Daniel JY, Dubus P, Mazurier F, Moreau-Gaudry F, de Verneuil H: A knock-in mouse model of congenital erythropoietic porphyria. Genomics. 2006 Jan;87(1):84-92. doi: 10.1016/j.ygeno.2005.08.018. Epub 2005 Nov 28.
Pubmed: 16314073
Porphyrin Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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