Home HOME Bratislava Medical Journal 2020 Bratislava Medical Journal Vol.121, No.10, p.760–766,2020

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.5

 

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Bratislava Medical Journal Vol.121, No.10, p.760–766,2020

Title: Inherited metabolic disorders of glycoconjugate metabolism
Author: Z. Pakanova, M. Nemcovic, J. Ziburova, J. Mucha, A. Salingova, C. Sebova, K. Jurickova, P. Barath
Abstract: Inherited metabolic disorders of glycoconjugate metabolism include congenital disorders of glycosylation (CDG) - disorders in biosynthesis of glycoconjugates; and some of the lysosomal storage diseases (LSD) – disorders of their degradation. This review summarizes the brief characteristics of metabolic pathways of synthesis and catabolism of glycoconjugates as well as the latest update of relevant enzymatic defects discovered in population. Every year the number of known subtypes of these disorders dramatically increases as a result of high-throughput analytical infrastructure applied. However, due to the broad spectrum of unspecific clinical symptoms, many patients remain undiagnosed or have wrong diagnosis with ineffective treatment. Thus, disorders of glycoconjugate metabolism should be considered and ruled out in any unexplained syndrome. The collaboration between scientists and physicians plays an important role in the progress of such personalized diagnostics, that is essential mainly for rare diseases (Tab. 2, Fig. 1, Ref. 49).
Keywords: congenital disorders of glycosylation, lysosomal storage disorders
Published online: 20-Sep-2020
Year: 2020, Volume: 121, Issue: 10 Page From: 760, Page To: 766
doi:10.4149/BLL_2020_124


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