RETROSPECTIVE EVALUATION OF THE CLINICAL AND LABORATORY CHARACTERISTICS OF PATIENTS WITH GLYCOGEN STORAGE DISEASE: A SINGLE-CENTER EXPERIENCE

Abstract

Aim: Glycogen storage diseases (GSDs) are a heterogeneous group of inherited metabolic disorders caused by defects in enzymes or transporters involved in glycogen metabolism. Their clinical manifestations vary widely according to the affected tissue and disease subtype, ranging from hepatic symptoms to muscle-related complaints. This study aimed to retrospectively evaluate the clinical and laboratory characteristics of patients with GSD followed at a tertiary center for inherited metabolic disorders.Material and Methods: This single-center retrospective study included patients diagnosed with GSD and followed at the Pediatric Metabolism Clinic of Ankara Etlik City Hospital between 2022 and 2025. Demographic features, clinical presentation, laboratory parameters, imaging findings, histopathological data, molecular genetic results, treatment approaches, and follow-up characteristics were reviewed from medical records.Results: Ten patients were included, of whom 70% were male. The median age at last evaluation was 7.8 years, and the median age at diagnosis was 4.6 years; two patients were diagnosed in adulthood. GSD type 0 was the most common subtype (40%). Four patients were referred after incidental detection of hypoglycemia or ketonuria, whereas others presented with hepatomegaly, elevated transaminases, developmental delay, easy fatigability, or exercise-induced muscle symptoms. Molecular genetic analysis was available for all patients. Discussion: Our findings highlight the broad phenotypic spectrum of GSDs, with the most commonly observed GSD Type 0, and emphasize the importance of considering these disorders in both pediatric and adult patients. Conclusion: Early recognition, molecular confirmation, and individualized long-term follow-up are essential for optimal management.