Erythropoietic porphyria

Definition:

Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia.

References:

[1]. Emmanuel Richard, et al. Erythropoietic porphyrias: animal models and update in gene-based therapies. Curr Gene Ther. 2008 Jun;8(3):176-86. [Content Brief]

[2]. Jordi To-Figueras, et al. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011 Aug 11;118(6):1443-51. [Content Brief]

[3]. Laurent Gouya, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006 Jan;78(1):2-14. [Content Brief]

[4]. Sharon D Whatley, et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008 Sep;83(3):408-14. [Content Brief]

[5]. U Gross, et al. Erythropoietic and hepatic porphyrias. J Inherit Metab Dis. 2000 Nov;23(7):641-61. [Content Brief]

[6]. Yoshiko Ohgari, et al. Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. Hum Mol Genet. 2005 Jan 15;14(2):327-34. [Content Brief]

[7]. Yvette Y Yien, et al. Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. [Content Brief]

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