Porphyria

Definition:

Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) are produced in excess and accumulate in tissues, resulting in neurological and/or photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and the very rare hepatoerythropoietic porphyria (HEP). Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP) has been reported.

References:

[1]. B Grandchamp, et al. Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci U S A. 1989 Jan;86(2):661-4. [Content Brief]

[2]. 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]

[3]. J C Deybach, et al. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum Mol Genet. 1996 Mar;5(3):407-10. [Content Brief]

[4]. J Lamoril, et al. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun. 1991 Dec 16;181(2):594-9. [Content Brief]

[5]. 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]

[6]. P Martasek, et al. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet. 1994 Mar;3(3):477-80. [Content Brief]

[7]. Yves Nordmann, et al. Human hereditary hepatic porphyrias. Clin Chim Acta. 2002 Nov;325(1-2):17-37. [Content Brief]

[8]. 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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