A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib

Pediatr Res. 1999 Jun;45(6):881-5. doi: 10.1203/00006450-199906000-00018.

Abstract

Neutrophils from patients suffering from glycogen storage disease type Ib (GSD-Ib) show several defects. one of which is a decreased rate of glucose utilization. In this study, we established experimental conditions to show the stimulation of the neutrophil respiratory burst by extracellular glucose. With phorbol-myristate-acetate as stimulus of the burst, the activity of the NADPH oxidase in GSD-Ib neutrophils hardly increased on addition of glucose. In control and GSD-type Ia neutrophils, a clear increase was observed. The lack of response to extracellular glucose in GSD-Ib neutrophils is correlated with the inability to raise intracellular glucose-6-P levels on glucose addition, thereby limiting the activity of the generation of NADPH in the hexose-monophosphate shunt. Our study shows the usefulness of this test for the diagnosis of neutrophil function abnormality in GSD-Ib patients.

MeSH terms

  • Adenosine Triphosphate / blood
  • Adolescent
  • Adult
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Glucose / pharmacology
  • Glucose-6-Phosphate / blood
  • Glycogen Storage Disease Type I / blood*
  • Glycogen Storage Disease Type I / classification
  • Glycogen Storage Disease Type I / diagnosis*
  • Humans
  • In Vitro Techniques
  • Infant
  • Infant, Newborn
  • NADPH Oxidases / blood
  • Neutrophils / drug effects
  • Neutrophils / metabolism*
  • Respiratory Burst / drug effects
  • Tetradecanoylphorbol Acetate / pharmacology

Substances

  • Glucose-6-Phosphate
  • Adenosine Triphosphate
  • NADPH Oxidases
  • Glucose
  • Tetradecanoylphorbol Acetate