Abstract
Three variants of glycogen storage disease (GSD) type I have been described:
-
(1)
A deficiency of microsomal liver phosphohydrolase in GSD la (Cori and Cori, 1952);
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(2)
Inactive glucose-6-phosphate (G6P) translocase in GSD Ib (Schaub and Heyne, 1983; Narisawa et al., 1987); and
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(3)
A lack of a translocase for phosphate in GSD Ic (Nordlie et al., 1983).
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References
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Cori, G. T. and Cori, C. F. Glucose-6-phosphate of liver in glycogen storage disease. J. Biol. Chem. 199 (1952) 661–667
Lange, A. J., Arion, W. J. and Beaudet, A. L. Type Ib glycogen storage disease is caused by a defect in glucose-6-phosphate translocase of microsomal glucose-6-phosphate system. J. Biol. Chem. 255 (1980) 8381–8384
Narisawa, K., Igarashi, Y. and Tada, K., Glycogen storage disease type Ib: genetic disorders involving the transport system of intracellular membrane. Enzyme 38 (1987) 177–183
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Schaub, J. and Heyne, K. Glycogen storage disease type Ib. Eur. J. Pediatr. 140 (1983) 283–288
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© 1989 SSIEM and Kluwer Academic Publishers
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Bashan, N., Potashnik, R., Phillip, M., Shin, Y.S., Moses, S.W. (1989). A Method for the Diagnosis of Glycogen Storage Disease Type Ib using Polymorphonuclear Leukocytes. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_47
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DOI: https://doi.org/10.1007/978-94-009-1069-0_47
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