Glycogen storage disease type

There are important methodologic considerations which apply to the use of cultured amniotic fluid cells for the detection of biochemical disorders. The first is that the enzymes which can be sampled are those which are usually present in fibroblasts or fibroblast-like cells. Therefore, conditions such as phenylketonuria and glycogen storage disease type I, which are associated with deficiencies of enzymes present only in liver and kidney, are not amenable to this approach. The same also pertains to enzyme deficiencies affecting other specific tissues. 

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. 

The most common glycogen storage disease. Type I or von Gierke disease, is a deficiency in glucose 6-phosphatase in which glycogen structures are normal however, the liver is unable to dephosphory-late glucose 6-phosphate, and it remains trapped In the cell. 

Of interest is the observation that markedly elevated plasma biotinidase activity may indicate glycogen storage disease type la [31]. 

Galvin-Parton P, Hommes FA (1996) Abnormal oligosaccharide pattern in glycogen storage disease type III. J Inherit Metab Dis 19 383-384... 

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. 

Glycogen storage disease type V (McArdle s disease) is caused by a deficiency of myophos-phorylase. It is the most common of the various types of glycogen storage disease, but is still considered rare (about 1 in 100000). 

Leuzzi R, Banhegyi G, Kardon T, Marcolongo P, Capecchi PL, 42. Burger, HJ, Benedetti A, Fulceri R. Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis a potential explanation for neutrophil dysfunction in 43. glycogen storage disease type lb. Blood 2003 101 2381-2387. 

Gerin I, Veiga-da-Cunha M, Achouri Y, Collet IF, Van Schaftingen E. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type lb. FEBS Lett. 1997 419 235-238. 

Figure 21.24. NMR Study of Humau Arm Muscle. The level of ADP during exercise increases much more in a patient with McArdle glycogen-storage disease (type V) than in normal controls. [After G. K. Radda. Biochem. Soc. Trans. 14 (1986) 522.]... 

K. J. Lei, L.L. Shelley, C.J. Pan, J.B. Sidbury, and J.Y. Chou. 1993. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type la Science 262 580-583. (PuhMed)... 

De Moor, R.A., Schweizer, J.J., van Hoek, B., Wasser, M., Vink, R., Maaswinkel-Mooy, P.D. Hepatocellular carcinoma in glycogen storage disease type IV. Arch. Dis. Childh. 2000 82 479-480... 

Lei, K.-X, Pan, C.-X, Llu,X-L., Shelly, L.L., Yang Chou, J. Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type la. J. Biol. Chem. 1995 270 11882-11886... 

Marfalng-Koka, A., Wolf, M., Boyer-Neumann, C., Meyer, D., Odievre, T., Labrune, T. Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type la. X Pediatr. Gastroenterol. Nutr. 2003 37 586- 570... 

Labrnne, R, Trioche, P., Duvaltier, L, Chevalier, R, Odievre, M. Hepatocellular adenomas in glycogen storage disease type I and III a series of 43 patients and review of the literature. J. Pediatr. Gastroenterol. Nutr. 1997 24 276 - 279... 

Of 13 patients with glycogen storage disease type lb and neutropenia or neutrophil dysfunction treated with G-CSF, all developed splenomegaly, usually after 3 months of treatment (49). Hypersplenism, as defined by moderate thrombocytopenia on at least two consecutive blood counts, was found in five patients, but none required specific interventions. In one carefully... 

Calderwood S, Kilpatrick L, Douglas SD, Freedman M, Smith-Whitley K, Rolland M, Kurtzberg J. Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type lb. Blood 2001 97(2) 376-82. 

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

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