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Congenital Disorders of Glycosylation With Defective Fucosylation Publisher Pubmed



Hullen A1 ; Falkenstein K1 ; Weigel C2 ; Huidekoper H3 ; Naumannbartsch N2 ; Spenger J4 ; Feichtinger RG4 ; Schaefers J3 ; Frenz S5 ; Kotlarz D5 ; Momen T6 ; Khoshnevisan R7, 8 ; Riedhammer KM9, 10 ; Santer R11 Show All Authors
Authors
  1. Hullen A1
  2. Falkenstein K1
  3. Weigel C2
  4. Huidekoper H3
  5. Naumannbartsch N2
  6. Spenger J4
  7. Feichtinger RG4
  8. Schaefers J3
  9. Frenz S5
  10. Kotlarz D5
  11. Momen T6
  12. Khoshnevisan R7, 8
  13. Riedhammer KM9, 10
  14. Santer R11
  15. Herget T12
  16. Rennings A13
  17. Lefeber DJ14
  18. Mayr JA4
  19. Thiel C1
  20. Wortmann SB4, 13
Show Affiliations
Authors Affiliations
  1. 1. Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany
  2. 2. Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany
  3. 3. Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
  4. 4. University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria
  5. 5. Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universitat Munchen, Munich, Germany
  6. 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. 7. Department of Immunology, Medical Faculty, Isfahan University of Medical Sciences, Isfahan, Iran
  8. 8. Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  9. 9. Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany
  10. 10. Department of Nephrology, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany
  11. 11. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  12. 12. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  13. 13. Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, Netherlands
  14. 14. Department of Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands

Source: Journal of Inherited Metabolic Disease Published:2021


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. © 2021 SSIEM
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