PMID: 8598636Jan 1, 1995Paper

Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta

Journal of Inherited Metabolic Disease
R A HawkinsA Burchell

Abstract

A male child presented at 5 months of age with vomiting, diarrhoea, hypoglycaemia and hepatomegaly. Histology on a frozen liver biopsy suggested glycogen storage disease (GSD), while biochemical analyses confirmed an elevated glycogen content and normal activities of the GSD enzymes with the proviso that a variant of GSD 1 should be considered. The patient presented at 9 months of age with severe lactic acidosis and hypoglycaemia. A glucagon tolerance test and galactose load test on the patient produced no glycaemic response. A second biopsy was obtained and appropriately handled for the investigation of variants of the glucose-6-phosphatase enzyme (G6Pase) complex. Results showed that the patient had a deficiency of two transport proteins of the G6Pase complex, namely glucose-6-phosphate translocase and pyrophosphate translocase, i.e. GSD 1b/1c beta. These results were confirmed by additional kinetic analyses which provided confirmation of the double translocase deficiency. Evidence for inhibitors to these translocases was not found. The patient's treatment has resulted in the hypoglycaemia now being well controlled; however, at 3 years of age, height and weight are markedly lagging and he is moderately developmentally delayed...Continue Reading

References

Aug 29, 1978·Biochemical and Biophysical Research Communications·K NarisawaK Tada
Jun 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·A Burchell
Jan 1, 1991·Journal of Inherited Metabolic Disease·A Burchell, L Gibb
Sep 1, 1990·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·A Burchell
Jan 1, 1990·Journal of Inherited Metabolic Disease·A Burchell, I D Waddell
Aug 1, 1989·Current Opinion in Cell Biology·B Burchell, A Burchell
Apr 15, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·A BurchellB Burchell
Apr 15, 1995·The Biochemical Journal·R FulceriA Benedetti
Mar 15, 1993·The Biochemical Journal·R W LuciusR C Nordlie

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