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

doi:10.1016/j.ymgmr.2020.100680

L-Fucose treatment of FUT8-CDG

Mol Genet Metab Rep. 2020 Dec 5:25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec.

Authors

Julien H Park^{1

2}, Janine Reunert¹, Miao He³, Robert G Mealer^{4

5

6}, Maxence Noel⁶, Yoshinao Wada⁷, Marianne Grüneberg¹, Judit Horváth⁸, Richard D Cummings⁶, Oliver Schwartz¹, Thorsten Marquardt¹

Affiliations

¹ Department of General Pediatrics, University of Münster, Münster, Germany.
² Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.
³ Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
⁴ Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
⁵ The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, MA, USA.
⁶ National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
⁷ Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
⁸ Institute of Human Genetics, University of Münster, Münster, Germany.

Abstract

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.

Keywords: Congenital disorders of glycosylation; Fucose; Mass spectrometry; Therapy.

Abstract

Grants and funding