Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)

Gucev, Zoran and Slavevska, Nevenka and Tasic, Velibor and Laban, Nevenka and Pop-Jordanova, Nada and Danilovski, Dragan and Woolf, Jacqueline and Cole, Duncan (2011) Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). Indian J Hum Genet, 17 (2). pp. 104-107.

[img]
Preview
Text
Laban Guceva Indian J Hum Genet 2011.pdf

Download (222Kb) | Preview

Abstract

Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and moderate hemolytic anemia. After years of skin damage, her face is mutilated; she has a bald patch on the scalp, hypertrichosis of the neck, areas of skin darkening, and limited joint movements of the hands. Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. Sequencing of the UROS gene identified two mutations causing CEP (Cys73Arg, Thr228Met). The patient lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in her treatment. In brief, we describe a CEP with confirmed two pathogenic mutations, severe phenotype and discuss the various treatment options available.

Item Type: Article
Uncontrolled Keywords: Congenital erythropoietic porphyria, mutation of the uroporphyrinogen III synthase gene, severe phenotypes, treatment
Subjects: Medical and Health Sciences > Other medical sciences
Divisions: Faculty of Medical Science
Depositing User: Biljana Kosturanova
Date Deposited: 15 Oct 2015 10:52
Last Modified: 15 Oct 2015 10:52
URI: http://eprints.ugd.edu.mk/id/eprint/13991

Actions (login required)

View Item View Item