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Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency

Evelina Moraru1, Oana Cuvinciuc, Luiza Antonesei

  • 12nd Clinic of Pediatrics, Sf. Maria Emergency Hospital for Children, Str. Vasile Lupu 62, Iasi, Romania. emoraru@iasi.mednet.ro

Journal of Gastrointestinal and Liver Diseases : JGLD
|April 6, 2007
PubMed

Insights

Glycogen storage disease type I (GSD I) presents with hepatomegaly and hypoglycemia. Early diagnosis and management are crucial for improving patient outcomes and preventing severe complications.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Hepatology

Background:

  • Glycogen storage disease type I (GSD I) is a rare inherited metabolic disorder.
  • It is characterized by impaired glucose metabolism due to enzyme deficiencies.
  • GSD I can lead to severe health complications if not managed promptly.

Purpose of the Study:

  • To delineate the clinical characteristics of patients diagnosed with GSD I.
  • To identify common presenting signs and symptoms.
  • To evaluate long-term disease outcomes and management strategies.

Main Methods:

  • Retrospective analysis of 6 pediatric patients with GSD I.
  • Data collection included clinical presentation, laboratory findings, liver biopsy results, and treatment regimens.
  • Patients were followed for 1 to 5 years.

Main Results:

  • Common symptoms included hepatomegaly, hypoglycemia, abdominal pain, and growth failure.
  • Key biochemical findings were hypoglycemia, lactic acidosis, and hypertriglyceridemia.
  • Liver biopsies revealed glycogen-laden hepatocytes and increased fat content.
  • Four patients had GSD Ia and two had GSD Ib, requiring diverse therapeutic approaches.

Conclusions:

  • GSD I necessitates prompt recognition due to significant morbidity and potential mortality.
  • Persistent hepatomegaly and hypoglycemia are critical indicators for considering GSD I.
  • Long-term management involves metabolic interventions, anti-infective therapy, and potentially liver transplantation.
Abstract

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