Year: 2026 | Month: February | Volume: 16 | Issue: 2 | Pages: 145-153
DOI: https://doi.org/10.52403/ijhsr.20260218
Clinical Profile of Glycogen Storage Diseases in South Indian Children - A Prospective Study
Jayaprakash Pandiaraj1, RK Sivakumar1, Sathish Dev D2
1Assistant Professor, Department of Paediatrics, Vels Medical College and Hospital, A Unit of VISTAS, Thiruvallur Dist, Tamil Nadu, India.
2Associate Professor, Department of Community Medicine, Vels Medical College and Hospital, A Unit of VISTAS, Thiruvallur Dist, Tamil Nadu, India.
Corresponding Author: Dr. Jayaprakash Pandiaraj
ABSTRACT
Background: Glycogen Storage Diseases (GSDs) are inherited metabolic disorders caused by enzyme deficiencies affecting glycogen synthesis or breakdown, leading to abnormal glycogen accumulation primarily in the liver and muscles. Early recognition is essential to prevent complications such as recurrent hypoglycaemia, growth failure, and organ dysfunction.
Aim: To study the clinical spectrum of GSD in children and correlate clinical presentation with biochemical and histopathological findings for early diagnosis and better management.
Materials and Methods: A descriptive observational study was conducted over 24 months at the Institute of Child Health, Egmore, Chennai. Twenty-five children clinically suspected and diagnosed with GSD were evaluated through detailed clinical assessment, biochemical investigations (blood glucose, lipid profile, uric acid, lactate, liver function tests), imaging, and histopathological examination using liver biopsy (and muscle biopsy in selected cases). Data were analysed using descriptive statistics.
Results: Among 25 children, 80% were below 5 years, with a male predominance (56%). Consanguinity was observed in 56%, and family history was positive in 14 cases. The most common presenting symptom was abdominal distension (56%), and hepatomegaly was the most consistent clinical finding (64%). Biochemical abnormalities included low fasting blood glucose (mean 45 ± 10 mg/dL), hypertriglyceridaemia (mean 320 ± 60 mg/dL), hyperuricaemia (mean 8 ± 2 mg/dL), lactic acidosis (mean 5.4 ± 1.1 mmol/L), and elevated transaminases (mean 110 ± 25 U/L). Liver biopsy showed vacuolated hepatocytes with PAS-positive glycogen deposits, confirming diagnosis. Hepatic forms (Types I, III, and IX) were the most common subtypes observed.
Conclusion: GSD predominantly presents in early childhood with hepatomegaly, hypoglycaemia, growth delay, and characteristic biochemical abnormalities. Clinical and biochemical evaluation supported by histopathology remains crucial for diagnosis in resource-limited settings. Early diagnosis and dietary interventions can significantly improve prognosis and reduce complications.
Key words: Glycogen Storage Disease, Hepatomegaly, Hypoglycaemia, Liver biopsy, Paediatric metabolic disorder