Novel monitoring and management strategies for hepatic glycogen storage diseases

Hepatic glycogen storage diseases (GSDs) constitute a group of inherited metabolic disorders that result from genetic variants in genes encoding enzymes and transporters involved in glycogen breakdown and synthesis. Refined diagnostic methods have significantly improved the identification of (most) individuals with hepatic GSDs. The development of new methods for monitoring (including long-term complications) and optimisation of management (including emergency situations) have been identified as top research priorities by patients, carers, and healthcare professionals. Part 1 of this PhD thesis addresses monitoring techniques, such as continuous glucose monitoring (CGM) and the identification of a novel promising biomarker (namely serum cortisol). Part 2 of this thesis describes novel management strategies, such as the high fat diet for (cardio)myopathy in GSDIII, a generic emergency protocol for individuals with hepatic GSDs, and empagliflozin therapy for inflammatory bowel disease in GSDIb. By defining novel minimally invasive monitoring tools and showing the benefit of innovative management strategies, the results of this thesis pave the way for precision medicine for individuals with hepatic GSDs.