title: Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met).
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.
authors.affiliation: Clinical Center, Faculty of Medicine Skopje, 50 Divizija BB, 1000 Skopje, Macedonia.
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gucev
authors.forename: Nevenka
authors.initials: N
authors.lastname: Slavevska
authors.forename: Velibor
authors.initials: V
authors.lastname: Tasic
authors.forename: Nevenka
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authors.lastname: Laban
authors.forename: Nada
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authors.lastname: Pop-Jordanova
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authors.initials: D
authors.lastname: Danilovski
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Woolf
authors.forename: Duncan
authors.initials: D
authors.lastname: Cole
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