Glycogen 1,6-glucosidase

Glucosidase and 0-galactosidase (sweet almond emulsin)[36] Glutamine synthetase (native octameric brain) 371 Glycogen phosphorylase At3 ]... 

II Pompe Lysosomal a- 1,4-glucosidase Cardiomegaly, muscle weakness, death by 2 years Glycogen-like material in inclusion bodies... 

This enzyme [EC 3.2.1.10] (also referred to as oUgo-1,6-glucosidase, sucrase-isomaltase, and limit dextrinase) catalyzes the hydrolysis of l,6-o -D-glucosidic linkages in isomaltose and dextrin products generated from starch and glycogen via a-amylase. See also Sucrase... 

Glycogen metabolism disorders Amylo-l,6-glucosidase defect Liver phosphorylase defect Glycogen synthetase defect... 

Table 4.6.10 Activities of a-glucosidase in controls and in patients with glycogen storage disease type II (GSD II)...

Incorporation of [14C]-glucose into glycogen by the reverse reaction of the hydrolase amylo-l,6-glucosidase. Measurement of the incorporated radioactivity in the precipitated glycogen [20, 39]. This assay can only test the enzymes function of the hydrolysis of the 1-6 bond (see section 4.6.16.1). 

Table 4.6.13 Enzyme activities (amylo-l,6-glucosidase - as assessed by levels of phosphorylase limit dextrin, PLD, and glycogen) in RBC... 

Brown DH, Brown BI (1966) Enzymes of glycogen debranching amylo-l,6-glucosidase and oligo-l,4->l,4-glucantransferase. Methods Enzymol 8 515-524... 

Van Hoof F (1967) Amylo-l,6-glucosidase activity and normal glycogen content of the erythrocytes of normal subjects, patients with glycogen storage disease and heterozygotes. Eur J Biochem 2 271-274... 

The most serious of the storage diseases involve none of the enzymes mentioned above. Pompe disease is a fatal generalized glycogen storage disease in which a lysosomal a-l,4-glucosidase is lacking. 

S. Yu, K. Bojsen, B. Svensson, and J. Marcussen, a-l,4-Glucan lyases producing 1,5-anhydro-D-fructose from starch and glycogen have sequence similarity to a-glucosidases, BBA Protein Struct. Mol. Enzym., 1433 (1999) 1-15, review, 53 references. 

Sun, B. et al. (2003). Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector. Mol. Ther. 7, 467-477. 

GSD II (Pompe) Acid a-glucosidase Glycogen Cardiomegaly, muscle weakness, respiratory insufficiency Mouse, quail, cattle, cat, sheep Ad IV (Ding et al., 2001, 2002) IM (Pauly et al., 1998 Ding et al., 2002 Martin-Touaux et al., 2002) Intra-cardiac (Pauly et al., 1998) PV (Pauly et al., 2001)... 

Amalfitano, A., Yie-Wylie, A. J., Hu, H., Dawson, T. L., Raben, N., Plotz, P. and Chen, Y. T. (1999). Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. Proc. Natl. Acad. Sci. USA 96, 8861-8866. 

Nicolino, M. P., Puech, J. P., Kremer, E. J., Reuser, A. J., Mbebi, C., Verdiere-Sahuque, M., Kahn, A. and Poenaru, L. (1998). Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II... 

Raben, N., Nagaraju, K., Lee, E., Kessler, P., Byrne, B., Lee, L., La Marca, M., King, C., Ward, J., Sauer, B. and Plotz, P. (1998). Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J. Biol. Chem. 273, 19086-19092. 

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