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Analysis of Fucosylated Human Milk Trisaccharides in Biotechnological Context Using Genetically Encoded Biosensors
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Congenital disorders of glycosylation with defective fucosylation

Andreas Hüllen1, Kristina Falkenstein1, Corina Weigel2

  • 1Centre for Child and Adolescent Medicine, Department 1, University of Heidelberg, Heidelberg, Germany.

Journal of Inherited Metabolic Disease
|August 14, 2021
PubMed

Insights

Congenital disorders of glycosylation (CDG) impacting fucosylation are rare but serious. This review details 25 patients, including five new cases of SLC35C1-CDG, and discusses fucose therapy effectiveness.

Area of Science:

  • Biochemistry and Molecular Biology
  • Genetics and Genomics
  • Clinical Medicine

Background:

  • Fucosylation plays a critical role in fundamental biological processes like cell recognition and interaction.
  • Congenital disorders of glycosylation (CDG) affecting fucosylation are rare, with only five types previously described.
  • These disorders impact intercellular and intracellular recognition, fertilization, and inflammatory responses.

Purpose of the Study:

  • To review and summarize the clinical findings, pathophysiology, and genotype of all known patients with fucosylation-related CDG.
  • To describe five new patients with novel variants in the SLC35C1 gene, expanding the known genetic landscape of these disorders.
  • To discuss the potential efficacy of fucose therapy across different fucosylation defects.

Main Methods:

  • Comprehensive literature review of clinical data from 25 patients with FUT8-CDG, FCSK-CDG, POFUT1-CDG, SLC35C1-CDG, and GFUS-CDG.
  • Clinical and genetic analysis of five newly identified patients with SLC35C1 gene variants.
  • Synthesis of existing knowledge regarding fucose therapy approaches and outcomes.

Main Results:

  • Detailed summary of clinical presentations and genetic findings for 25 patients with fucosylation-related CDG.
  • Identification and characterization of five new patients with novel SLC35C1 variants, contributing to the understanding of this specific CDG type.
  • Discussion on the variable efficacy of fucose therapy in patients with different fucosylation defects.

Conclusions:

  • Fucosylation defects lead to a spectrum of clinical manifestations requiring detailed genotypic and phenotypic correlation.
  • The identification of new variants in SLC35C1 expands the diagnostic and research scope for fucosylation-related CDG.
  • Fucose therapy shows promise but requires further investigation to optimize its application across various fucosylation disorders.

Keywords:
CDGcoarse facial featuresdevelopmental delayepilepsyfucosylationintellectual disabilityneutrophilia

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