Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease

The Journal of Clinical Endocrinology and Metabolism
P MarcolongoA Burchell

Abstract

The transport of glucose-6-phosphate (G6P), glucose, and orthophosphate into liver microsomes, isolated from six patients with various subtypes of type 1 glycogen storage disease (GSD), was measured using a light-scattering method. We found that G6P, glucose, and phosphate could all cross the microsomal membrane, in four cases of type 1a GSD. In contrast, liver microsomal transport of G6P and phosphate was deficient in the GSD 1b and 1c patients, respectively. These results support the involvement of multiple proteins (and genes) in GSD type 1. The results obtained with the light-scattering method are in accordance with conventional kinetic analysis of the microsomal glucose-6-phosphatase system. Therefore, this technique could be used to directly diagnose type 1b and 1c GSD.

References

Sep 15, 1992·The Biochemical Journal·R FulceriA Benedetti
Jun 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·A Burchell
Dec 11, 1991·Biochimica Et Biophysica Acta·J D FosterR C Nordlie
Jan 1, 1991·Journal of Inherited Metabolic Disease·A Burchell, L Gibb
Apr 1, 1991·The Biochemical Journal·I D Waddell, A Burchell
Jan 1, 1989·Journal of Inherited Metabolic Disease·A BurchellR Hume
Apr 15, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·A BurchellB Burchell
Oct 1, 1994·Molecular Membrane Biology·A BurchellR Hume
Apr 15, 1995·The Biochemical Journal·R FulceriA Benedetti
May 23, 1997·The Journal of Biological Chemistry·G BánhegyiA Benedetti

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Citations

Mar 7, 2002·The Biochemical Journal·Emile van Schaftingen, Isabelle Gerin

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