What are the key clinical features to consider when suspecting a glycogen storage disorder in a paediatric patient?

When suspecting a glycogen storage disorder (GSD) in a paediatric patient, key clinical features to consider include hypoglycaemia often presenting with symptoms such as lethargy, seizures, or irritability due to impaired glycogenolysis or gluconeogenesis. Hepatomegaly is a common finding resulting from glycogen accumulation in the liver. Additionally, growth retardation or failure to thrive may be evident due to chronic metabolic imbalance. Muscle involvement, such as muscle weakness or hypotonia, can be present in certain types of GSD, particularly type III. Other features include hyperlipidaemia and elevated liver enzymes, reflecting metabolic disturbance and liver dysfunction. In some subtypes, cardiomyopathy may also be a presenting feature. A detailed family history and early onset of symptoms in infancy or early childhood further support suspicion of GSD. These clinical signs should prompt biochemical and genetic investigations to confirm diagnosis and guide management Kishnani et al. 2010Gümüş & Özen 2023Hannah et al. 2023 NICE NG18.