Congenital Erythropoietic Porphyria (CEP) or Gunther Disease


Congenital Erythropoietic Porphyria (CEP) or Gunther Disease is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. This disorder of bone marrow heme synthesis is caused by a defect in the UROS gene which codes for uroporphyrinogen-III synthase. This enzyme is involved in the fourth step of porphyrin metabolism, involved in the conversion of hydroxymethyl bilane into uroporphyrinogen III. Its defect results in accumulation of uroporphyrin III, coproporphyrin III and porphyrins; Uroporphyrin I in erythrocytes. Symptoms and signs include blistering and fragility of light-exposed skin, discolored urine, concomitant jaundice, reddish color teeth. The severe loss of bone with subsequent contractures and deformities occurs in most adults with erythropoietic porphyria.

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References

  1. Uniprot: P10746
  2. OMIM: Entry 263700
  3. 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. Pp. 1301-1384.
  4. 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. Epub 2006 Feb 9. Pubmed
  5. Desnick RJ, Astrin KH: Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun;117(4):779-95. Pubmed
  6. 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. Pubmed