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      Congenital disorders of glycosylation with defective fucosylation.

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          Abstract

          Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.

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          Author and article information

          Journal
          J Inherit Metab Dis
          Journal of inherited metabolic disease
          Wiley
          1573-2665
          0141-8955
          November 2021
          : 44
          : 6
          Affiliations
          [1 ] Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.
          [2 ] Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
          [3 ] Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
          [4 ] University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
          [5 ] Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
          [6 ] Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
          [7 ] Department of Immunology, Medical Faculty, Isfahan University of Medical Sciences, Isfahan, Iran.
          [8 ] Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
          [9 ] Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
          [10 ] Department of Nephrology, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
          [11 ] Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
          [12 ] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
          [13 ] Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, The Netherlands.
          [14 ] Department of Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
          Article
          10.1002/jimd.12426
          34389986
          85d2055f-cc79-4911-9571-a3ef357759b8
          History

          fucosylation,CDG,coarse facial features,developmental delay,epilepsy,intellectual disability,neutrophilia

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