Introduction: Glycogen Storage Disease (GSD) comprise a group of inherited metabolic disorders resulting from pathogenic variants affecting glycogen degradation. Objectives: We aim to describe the genetic landscape of children with GSD referred to apaediatric hepatology service in Sri Lanka (SL). Methods: A retrospective review was performed for children with genetically confirmed GSDs (whole exome sequencing) at the Colombo North Centre for Liver Diseases, SL (2020–2025). Data were retrieved from the database following consent and institutional approval. Variants were classified using population frequency databases, in silico prediction algorithms, andACMG– AMP criteria. Results: A total of 16 children were genetically confirmed to have GSD. The median age was 2 years (range 1–13 years) and 8 (50%) were male. All were autosomal recessive in inheritance except one child with X-linked recessive GSD IXa. Common clinical presentations included hepatomegaly , abdominal distension, growth faltering, elevated transaminases,hypertriglyceridaemia, intermittent hypoglycaemia. Consanguinity was reported in 5 (33%). GSD VI (PYGL-related) was the most prevalent subtype (8/15), followed by GSD III (AGL; n=4), GSD I (G6PC1; n=1), and GSD IXa (PHKA2; n=1), GSD IXb (PHKB; n=1) AND GSD IXc (PHKG2; n=1). Twelve children were homozygous, three compound heterozygous, and one was male hemizygousfor PHKA2. Six variants were classified as unknown varians (VUS), four were novel, and two children carried the recurrent PYGL p.Arg816Gln variant. Conclusion: This first genetically characterised paediatric GSD cohort from SL demonstrates a predominance of PYGLassociated GSD VI and reveals both recurrent and novel variants contributing to phenotypic diversity .