Glycogen storage disease type II

Figure 21.23. Glycogen-Engorged Lysosome. This electron micrograph shows skeletal muscle from an infant with type II glycogen-storage disease (Pompe disease). The lysosomes are filled with glycogen because of a deficiency in a-1,4-glucosidase, a hydrolytic enzyme confined to lysosomes. The amount of glycogen in the cytosol is normal. [From H.-G. Hers and F. Van Hoof, Eds. Lysosomes and Storage Diseases (Academic Press, 1973), p. 205.]...

A genetic defect of lysosomal glu-cosidase, called type II glycogen storage disease, leads to the accumulation of glycogen particles in large, membrane-enclosed residual bodies, which disrupt the function of liver and muscle cells. Children with this disease usually die of heart failure at a few months of age. 

In Pompe disease (type II glycogen storage disease), there is accumulation of normal glycogen in the lysosomes of almost all tissues. Early death usually results from heart failure. The enzyme that is defective is in the lysosomes, and it would normally hydrolyze both the 1— 4 and 1—>6 linkages of glycogen. Why might it he that almost all tissues are affected ... 

An examination of the catabolism of glycogen by an acid a-l,4-glucosidase present in cultured skin fibroblasts of normal cells and in those derived from patients with Cori Type II glycogen-storage disease has indicated the presence of an extra-lysosomal glycogen that is more amenable to degradation. ... 

Several types of glycogen-storage disease are now known in most cases, the accumulation of glycogen can be correlated with a relative deficiency of either n-glucose 6-phosphatase or the debranching-enzyme system (Type I and III disease, respectively). In a very few cases, the enzymic defect is either in branching enzyme or in phosphorylase (Type IV or VI disease, respectively) see Table VII. In the Type II and V diseases, the enzyme deficiencies are different from the above, but have not yet been fully identified. 

Martiniuk, F., Chen, A., Donnabella, V. et al. (2000) Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line. Biochemical and Biophysical Research Communications, 276 (3), 917-923. 

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

Okumiya T, Keulemans JLM, Kroos MA, Van der Beek NME, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJJ (2006) A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol Genet Metab 88 22-28... 

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. 

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. 

Bodamer, O. A., Halliday, D. and Leonard, J. V. (2000). The effects of 1-alanine supplementation in late-onset glycogen storage disease type II. Neurology 55, 710-712. 

Mah, C., Cresawn, K. O., Fraites, T. J., Lewis, M. A., Zolotukhin, I. and Byrne, B. (in press). Sustained correction of glycogen storage disease type II using adeno-associated virus serotype I vectors. Gene Ther. 

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. 

Indications Pompe disease (Glycogen storage disease Type II), GAA deficiency... 

Bijvoet AG, Van Hirtum H, Kroos MA, et al. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum. Mol. Genet., 1999 8(12) 2145-2153. 

An increased urinary excretion of the D-glucosyl tetrasaccharide (44) has been detected in patients with Duchenne muscular dystrophy.This oligosaccharide was originally reported in the urine of a patient with glycogen storage disease type II (Pompe s disease). 

Glycogen storage disease type II Acid a-glucosidase GAA Pompe disease... 

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