Related Experiment Video
Updated: Jan 21, 2026
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Characterization of Membrane Transporters by Heterologous Expression in E. coli and Production of Membrane Vesicles
Published on: December 31, 2019
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CDG due to Defective Membrane Transporters: Update
D Quelhas1,2,3, C R Ferreira4, J Jaeken5
1Unidade de Bioquímica Genética, Serviço de Genética Laboratorial, Centro de Genética Médica, Clínica de Genética e Patologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal.
Journal of Inherited Metabolic Disease
|January 19, 2026
Summary
Congenital disorders of glycosylation (CDG) involve genetic defects in glycan assembly. This review focuses on CDG caused by transporter defects, updating clinical, genetic, and therapeutic knowledge.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Congenital disorders of glycosylation (CDG) are inherited conditions affecting glycan synthesis.
- Over 200 CDG types are known, primarily enzymatic deficiencies.
- A subset of CDG involves defects in ER, Golgi apparatus, and plasma membrane transporters.
Purpose of the Study:
- To provide an updated overview of CDG related to transporter defects.
- To cover clinical, biochemical, genetic, and therapeutic aspects.
- To include information on relevant animal models.
Main Methods:
- Literature review focusing on CDG involving transporters.
- Exclusion of defects in other cellular trafficking mechanisms.
- Synthesis of current knowledge on clinical presentation, genetics, and treatment.
Main Results:
- 13 CDG types (6.5%) are linked to transporter defects.
- Review details the clinical spectrum, genetic basis, and biochemical findings.
- Therapeutic strategies and animal models are discussed.
Conclusions:
- Transporter defects represent a significant, though less common, category of CDG.
- Comprehensive understanding of these CDG is crucial for diagnosis and management.
- Further research into therapeutic interventions is warranted.
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