دورية أكاديمية
Congenital erythropoietic porphyria.
العنوان: | Congenital erythropoietic porphyria. |
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المؤلفون: | To-Figueras J; Biochemistry and Molecular Genetics Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain., Erwin AL; Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care, Cleveland Clinic, Cleveland, Ohio, USA., Aguilera P; Dermatology Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain., Millet O; Precision Medicine and Metabolism Laboratory, CIC bioGUNE, Basque Research and Technology Alliance (BRTA), Bilbao, Spain., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. |
المصدر: | Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2024 Aug; Vol. 44 (8), pp. 1842-1855. Date of Electronic Publication: 2024 May 08. |
نوع المنشور: | Journal Article; Review |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Malden, MA : Wiley-Blackwell Original Publication: Oxford, UK : Blackwell Munksgaard, c2003- |
مواضيع طبية MeSH: | Porphyria, Erythropoietic*/genetics , Porphyria, Erythropoietic*/diagnosis , Porphyria, Erythropoietic*/therapy , Uroporphyrinogen III Synthetase*/genetics , Uroporphyrinogen III Synthetase*/metabolism, Humans ; Uroporphyrins/genetics |
مستخلص: | Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non-physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non-immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented. (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.) |
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فهرسة مساهمة: | Keywords: erythroid disease; heme biosynthesis pathway; porphyria; uroporphyrinogen III synthase |
المشرفين على المادة: | EC 4.2.1.75 (Uroporphyrinogen III Synthetase) 0 (Uroporphyrins) |
تواريخ الأحداث: | Date Created: 20240508 Date Completed: 20240716 Latest Revision: 20240716 |
رمز التحديث: | 20240716 |
DOI: | 10.1111/liv.15958 |
PMID: | 38717058 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1478-3231 |
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DOI: | 10.1111/liv.15958 |