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Updated: Dec 3, 2025

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
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Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Published on: December 23, 2014

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Clinical profile and outcome of glycogen storage disease in Indian children

Vishrutha Poojari1, Ira Shah1, Naman S Shetty1

  • 1Pediatric Liver Clinic, B. J. Wadia Hospital for Children, Mumbai, India.

Tropical Doctor
|October 27, 2020
PubMed

Insights

This study details the clinical features and outcomes of 36 Indian children with glycogen storage disorders, highlighting common symptoms like abdominal swelling and seizures, and challenging follow-up rates.

Area of Science:

  • Pediatrics
  • Metabolic Disorders
  • Hepatology

Background:

  • Glycogen storage disorders (GSDs) are a group of inherited metabolic diseases affecting glycogen metabolism.
  • Understanding the clinical presentation and long-term outcomes in affected children is crucial for effective management.

Purpose of the Study:

  • To investigate the clinical profile and outcomes of Indian children diagnosed with glycogen storage disorders.
  • To identify common presenting symptoms, complications, and treatment responses in this cohort.

Main Methods:

  • Retrospective analysis of 36 children diagnosed with GSDs via liver biopsy between 2005 and 2018.
  • Review of clinical data including presenting symptoms, biochemical parameters, and follow-up information.

Main Results:

  • Abdominal swelling was the most common presentation (77.7%), followed by convulsions (25%).
  • Associated symptoms included hypoglycemia, developmental delay, diarrhea, ascites, and portal hypertension.
  • Complications observed during follow-up included recurrent seizures, neutropenia, infections, nephrocalcinosis, and liver adenoma.
  • Liver function showed improvement in 37.5% of patients, with normalization of triglycerides and transaminases in some.

Conclusions:

  • Glycogen storage disorders in Indian children present with diverse clinical features, often including hepatomegaly and hypoglycemia.
  • Significant challenges exist in patient follow-up, impacting the assessment of long-term outcomes.
  • Early diagnosis and comprehensive management are essential to mitigate complications and improve outcomes in pediatric GSDs.

Keywords:
ChildrenIndiaglycogen storage disease

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