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Acetazolamide-Responsive Exertion-Triggered Episodic Ataxia in DHDDS-Related Congenital Disorder of Glycosylation.

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A Bedside, Single Burr Hole Approach to Multimodality Monitoring in Severe Brain Injury
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CDG Therapies: From Bench to Bedside.

Sandra Brasil1,2, Carlota Pascoal3,4,5, Rita Francisco6,7,8

  • 1Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. s.arduim@gmail.com.

International Journal of Molecular Sciences
|April 28, 2018
PubMed
Summary

Congenital disorders of glycosylation (CDG) involve over 100 genetic conditions affecting protein modification. This review highlights recent therapeutic advances for CDG, offering hope for improved patient outcomes.

Keywords:
animal modelsbiomarkersclinical trialscongenital disorders of glycosylation (CDG)diagnosisdietary supplementationgalactosemannosepharmacological chaperonestherapy

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Congenital disorders of glycosylation (CDG) encompass over 100 rare genetic conditions impacting protein and lipid glycosylation.
  • These disorders result in a wide spectrum of clinical symptoms, ranging from mild to severe, due to glycosylation's essential role in post-translational modification.
  • Current treatments are limited, with only a few CDG types benefiting from potentially curative therapies like dietary supplementation or organ transplantation.

Purpose of the Study:

  • To summarize recent advancements in therapeutic strategies for Congenital disorders of glycosylation.
  • To explore novel diagnostic approaches, models, and biomarkers that can inform future treatments.
  • To provide an overview of emerging therapeutic avenues aimed at improving the lives of CDG patients.

Main Methods:

  • Literature review of recent research on Congenital disorders of glycosylation therapies.
  • Analysis of innovative diagnostic tools and preclinical/clinical models.
  • Synthesis of information on novel biomarkers and their therapeutic implications.

Main Results:

  • Several CDG types have targeted therapies, including specific nutrient supplementation (e.g., galactose, mannose, fucose) and organ transplantation.
  • Significant progress has been made in developing new diagnostic methods and in vitro/in vivo models for CDG research.
  • Emerging biomarkers and therapeutic strategies show promise for ameliorating CDG symptoms and enhancing patient quality of life.

Conclusions:

  • Despite challenges, the field of Congenital disorders of glycosylation therapeutics is advancing rapidly.
  • Innovative approaches in diagnostics and modeling are paving the way for more effective treatments.
  • Continued research into novel therapeutic avenues is crucial for addressing the unmet needs of the majority of CDG patients.