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CDG biochemical screening: Where do we stand?

Arnaud Bruneel1, Sophie Cholet2, N Thuy Tran3

  • 1AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France; Université Paris-Saclay, INSERM UMR1193, Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse, Châtenay-Malabry, France.

Biochimica Et Biophysica Acta. General Subjects
|June 9, 2020
PubMed
Summary

Congenital disorders of glycosylation (CDG) arise from genetic defects in protein and lipid glycosylation. This review details biomarkers and methods for diagnosing these complex inherited diseases.

Keywords:
BikuninCDG biomarkerCDG screeningGlycan mass spectrometryInherited GPI biosynthesis defectsTIEF

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Glycosylation is a complex post-translational modification involving numerous genes.
  • Defects in glycosylation lead to congenital disorders of glycosylation (CDG).

Purpose of the Study:

  • To critically review current biochemical biomarkers for CDG diagnosis.
  • To present dedicated methods for analyzing glycosylation defects.
  • To discuss emerging tools for improved CDG diagnosis.

Main Methods:

  • Review of existing literature on CDG biomarkers and diagnostic techniques.
  • Analysis of common and emerging glycoproteins in biochemical screening.
  • Overview of methodologies including gel electrophoresis and mass spectrometry.
  • Discussion of metabolomics and microfluidics for CDG delineation.

Main Results:

  • Common and emerging blood and cellular glycoproteins serve as key biochemical indicators for CDG screening.
  • Current methodologies range from traditional electrophoresis to advanced mass spectrometry for detecting aberrant glycosylation.
  • Integrating metabolomics and microfluidics offers potential for enhanced CDG diagnosis.

Conclusions:

  • Diagnosing CDG requires a combination of biochemical indicators and methods due to clinical heterogeneity.
  • Accurate diagnosis and delineation of CDG rely on a comprehensive understanding of diverse glycosylation pathways.