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Short Summary: The science of glycosylation, its impact on health, and potential treatments for congenital disorders of glycosylation (CDGs).

About the guest: Dr. Eva Morava is a pediatric geneticist originally from Hungary, who has specialized in inborn errors of metabolism, particularly CDGs. She has a background in pediatrics and genetics from training in Hungary and the U.S. and is director of the Inherited Metabolic Disorders Section at GGS.

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Episode Summary: Dr. Eva Morava discusses the critical role of glycosylation in biology, where sugars are not just used for energy but in modifying proteins to perform their functions. She explains how defects in this process lead to CDGs, a group of rare genetic disorders. The conversation covers the mechanics of glycosylation, clinical presentations of CDGs, current research on treatments including dietary interventions and gene therapy, and the broader implications of glycosylation in health, such as in liver disease and cancer.

Key Takeaways:

• Glycosylation Basics: Sugars are attached to proteins (glycosylation) to modify their structure and function, influencing everything from clotting to immune response.
• CDGs: These disorders are caused by genetic defects in the glycosylation process, leading to a wide array of symptoms because many proteins require glycosylation to function correctly.
• Clinical Variability: CDGs can range from severe, multi-systemic presentations to relatively mild cases, affecting life expectancy and quality of life variably.
• Therapeutic Approaches: Current research includes drug repurposing for enzyme activity enhancement, dietary interventions with special sugars like mannose, and gene therapy, with some trials underway.
• Liver Connection: A significant portion of glycosylation occurs in the liver; thus, liver diseases like non-alcoholic fatty liver disease can impact glycosylation.

*Not medical advice.

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