title: A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib.
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.
authors.affiliation: Sanquin Blood Supply Foundation and Laboratory for Experimental and Clinical Immunology, University of Amsterdam, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: Verhoeven
authors.forename: G
authors.initials: G
authors.lastname: Visser
authors.forename: R
authors.initials: R
authors.lastname: van Zwieten
authors.forename: B
authors.initials: B
authors.lastname: Gruszczynska
authors.forename: D W
authors.initials: DW
authors.lastname: Tien Poll-The
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005947:Glucose / Q000494:pharmacology; D019298:Glucose-6-Phosphate / Q000097:blood; D005953:Glycogen Storage Disease Type I / Q000097:blood* / Q000145:classification / Q000175:diagnosis*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D007231:Infant, Newborn; D019255:NADPH Oxidases / Q000097:blood; D009504:Neutrophils / Q000187:drug effects / Q000378:metabolism*; D016897:Respiratory Burst / Q000187:drug effects; D013755:Tetradecanoylphorbol Acetate / Q000494:pharmacology
chemical_list: D019298:Glucose-6-Phosphate; D000255:Adenosine Triphosphate; D019255:NADPH Oxidases; D005947:Glucose; D013755:Tetradecanoylphorbol Acetate