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Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy

Dirk E Bock1, Charles A Rupar, Chitra Prasad

  • 1Department of Paediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada. dirk.bock@lhsc.on.ca

Acta Paediatrica (Oslo, Norway : 1992)
|March 1, 2011
PubMed

Insights

Glycogen storage disease type Ib (GSD Ib) is a rare metabolic disorder. Early diagnosis and dietary management are crucial for affected infants presenting with hypoglycemia and lactic acidosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Glycogen storage disease type Ib (GSD Ib) is an inherited metabolic disorder.
  • It results from a defect in the glucose-6-phosphate translocase enzyme, crucial for glucose metabolism.

Observation:

  • A 3-month-old infant presented with respiratory infection and poor feeding, incidentally found to have severe hypoglycemia, lactic acidosis, ketonuria, hyperlipidemia, hepatomegaly, growth failure, and neutropenia.
  • These clinical signs suggested a metabolic disorder affecting glycogen metabolism.

Findings:

  • Genetic testing confirmed GSD Ib, a defect in the microsomal transporter glucose-6-phosphate-translocase.
  • The patient's condition was managed with intravenous glucose, fluids, and a specialized diet including cornstarch-enriched formula and overnight gastrostomy feeds.

Implications:

  • GSD I should be considered in young children with hypoglycemia and lactic acidosis.
  • Neutropenia is a key indicator for GSD Ib, and critical hypoglycemia may not always present with obvious symptoms.
Abstract

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