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Glucose production and utilization in children with glycogen storage disease type I

Insights

Children with glycogen storage disease type I (GSD I) exhibit reduced glucose production rates, similar to normal children after a 30-hour fast. Their glucose utilization is higher, contributing to hypoglycemia.

Area of Science:

  • Biochemistry
  • Pediatric Endocrinology
  • Metabolic Disorders

Background:

  • Glycogen storage disease type I (GSD I) is a metabolic disorder characterized by hypoglycemia.
  • Understanding glucose metabolism is crucial for managing GSD I complications.

Purpose of the Study:

  • To investigate whether hypoglycemia in GSD I is caused by decreased glucose production or increased glucose utilization.
  • To quantify glucose turnover rates in children with GSD I.

Main Methods:

  • Utilized [2H2]glucose tracer to estimate glucose turnover rates in five children with GSD I.
  • Sequentially reduced exogenous glucose infusion rates to observe effects on endogenous glucose production and utilization.
  • Compared results with data from normal children under varying fasting conditions.

Main Results:

  • Children with GSD I showed significantly lower endogenous glucose production rates (3.9 mg X kg-1 X min-1) compared to overnight-fasted normal children (6.3 mg X kg-1 X min-1).
  • Glucose production rates in GSD I were comparable to normal children fasted for 30 hours.
  • Glucose utilization rates were elevated in GSD I patients, even with lower plasma glucose concentrations.

Conclusions:

  • Hypoglycemia in GSD I is attributed to a combination of reduced glucose production and increased glucose utilization.
  • Impaired endogenous glucose production in GSD I is a significant factor contributing to their metabolic derangements.

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