Summary
The diagnosis of glycogen storage disease type Ia currently uses enzyme analysis of liver tissue. This requires liver biopsy in the at-risk neonate or fetus. Conflicting reports have appeared in the literature on the use of peripheral platelet glucose-6-phosphatase activity for the diagnosis of this disorder. We have applied a sensitive radiometric assay system to the measurement of glucose-6-phosphatase activity in peripheral platelets. Two families with affected members were analysed, revealing no differences in glucose-6-phosphatase activity as compared with control values. Platelet measurement of glucose-6-phosphatase does not appear to be useful for the diagnosis of glycogen storage disease type Ia.
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Goldberg, J.D., Terleaven, S.C., Koresawa, M. et al. Unreliability of platelet glucose-6-phosphatase for the diagnosis of glycogen storage disease type Ia. J Inherit Metab Dis 16, 844–850 (1993). https://doi.org/10.1007/BF00714276
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DOI: https://doi.org/10.1007/BF00714276