A scoping review of digital health technologies in glycogen storage diseases

Abstract Glycogen storage diseases (GSDs) are rare inherited metabolic disorders requiring complex management. Digital health technologies (DHTs) offer solutions for improving care delivery, yet their implementation remains poorly characterised. This scoping review systematically mapped DHT applications in GSDs following PRISMA-ScR guidelines, searching four databases through June 2026. We identified 44 studies with 662 participants across 17 GSD subtypes, revealing geographic concentration in Europe (48%), focus on hepatic subtypes (59%), and predominant use of continuous glucose monitoring (CGM) (66%). Five themes of DHT in GSD research emerged: intervention evaluation, communication enhancement, clinical monitoring, population surveillance, and technology development. Critical gaps included underrepresentation of muscle subtypes and minimal research in movement behaviour and psychosocial evaluation. Glucose-centric DHT use predominates in research; whilst clinically valuable, this neglects holistic health monitoring. Future research should prioritise comprehensive digital ecosystems integrating metabolic, behavioural, and psychosocial monitoring to optimise care for all individuals with GSDs.