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Liver Microsomal Transport of Glucose-6-Phosphate, Glucose, and Phosphate in Type 1 Glycogen Storage Diseases¹

Istituto di Patologia Generale (P.M., G.B., A.Be.), Univesità di Siena, 53100 Siena, Italy; and Department of Obstetrics and Gynaecology (C.J.H., A.Bu.), Ninewells Hospital and Medical School, University of Dundee, DD1 9SY Scotland

Address all correspondence and requests for reprints to: Prof. A. Benedetti, Istituto di Patologia Generale, Univesità di Siena, Viale Aldo Moro, 53100 Siena, Italy. E-mail: benedetti{at}unisi.it

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.