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Congenital disorders of glycosylation with defective fucosylation.
Hüllen, Andreas; Falkenstein, Kristina; Weigel, Corina; Huidekoper, Hidde; Naumann-Bartsch, Nora; Spenger, Johannes; Feichtinger, René G; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian M; Santer, René; Herget, Theresia; Rennings, Alexander; Lefeber, Dirk J; Mayr, Johannes A; Thiel, Christian; Wortmann, Saskia B.
Afiliación
  • Hüllen A; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.
  • Falkenstein K; Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.
  • Weigel C; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
  • Huidekoper H; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Naumann-Bartsch N; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
  • Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Schaefers J; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Frenz S; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Kotlarz D; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Momen T; 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.
  • Khoshnevisan R; Department of Immunology, Medical Faculty, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Riedhammer KM; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Santer R; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Herget T; Department of Nephrology, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Rennings A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Lefeber DJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Mayr JA; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Thiel C; Department of Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
J Inherit Metab Dis ; 44(6): 1441-1452, 2021 11.
Article en En | MEDLINE | ID: mdl-34389986
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Monosacáridos / Trastornos Congénitos de Glicosilación / Fucosa Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Monosacáridos / Trastornos Congénitos de Glicosilación / Fucosa Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania