Abstract
Type IV glycogen storage disease (Andersen’s disease: McKusick 23250) is a rare congenital disorder characterized by hepatosplenomegaly and growth retardation. The onset and the progress of the disease as well as the severity of the clinical manifestation are greatly variable (Andersen, 1956; Guerra et al., 1986; Landing el al., 1968; McMaster et al., 1979). The activity of α-1, 4-glucan: α-1, 4-glucan 6-transglucosylase (branching enzyme, E.C. 2.4.1.18) was found to be deficient in fibroblasts (Brown and Brown, 1966; Landing et al., 1968) and in leukocytes (Fernandes and Huijing, 1968) of the patients with type IV glycogenosis. In this study we report the branching enzyme activity in various human tissues, especially in erythrocytes where the enzyme activity is not only readily measurable but also clearly distinguishable between various phenotypes.
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© 1988 Springer Science+Business Media Dordrecht
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Shin, Y.S., Steigüber, H., Klemm, P., Endres, W., Schwab, O., Wolff, G. (1988). Branching Enzyme in Erythrocytes. Detection of Type IV Glycogenosis Homozygotes and Heterozygotes. In: Pollitt, R.J., Harkness, R.A., Addison, G.M. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1259-5_46
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DOI: https://doi.org/10.1007/978-94-009-1259-5_46
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