L-Fucose treatment of FUT8-CDG

Julien H. Park; Janine Reunert; Miao He; Robert G. Mealer; Maxence Noel; Yoshinao Wada; Marianne Grüneberg; Judit Horváth; Richard D. Cummings; Oliver Schwartz; Thorsten Marquardt

Molecular Genetics and Metabolism Reports (Dec 2020)

L-Fucose treatment of FUT8-CDG

Julien H. Park,
Janine Reunert,
Miao He,
Robert G. Mealer,
Maxence Noel,
Yoshinao Wada,
Marianne Grüneberg,
Judit Horváth,
Richard D. Cummings,
Oliver Schwartz,
Thorsten Marquardt

Affiliations

Julien H. Park: Department of General Pediatrics, University of Münster, Münster, Germany; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden
Janine Reunert: Department of General Pediatrics, University of Münster, Münster, Germany
Miao He: Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA
Robert G. Mealer: Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
Maxence Noel: National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
Yoshinao Wada: Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan
Marianne Grüneberg: Department of General Pediatrics, University of Münster, Münster, Germany
Judit Horváth: Institute of Human Genetics, University of Münster, Münster, Germany
Richard D. Cummings: National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
Oliver Schwartz: Department of General Pediatrics, University of Münster, Münster, Germany
Thorsten Marquardt: Department of General Pediatrics, University of Münster, Münster, Germany; Corresponding author.

Journal volume & issue: Vol. 25
p. 100680

Abstract

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FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the severe phenotype, oral L-fucose supplementation was started. Glycosylation analysis using mass spectrometry indicated a limited response to fucose therapy while the clinical presentation stabilized. Further research is needed to assess the concept of substrate supplementation in FUT8-CDG.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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