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MeSH Review:

Glycogen Storage Disease Type I

Vandepitte, K. et al., Lattke, H. et al., Parvari, R. et al., Shelly, L.L. et al., Glauert, H.P. et al., et al.

Parvari, Lei, Szonyi, Narkis, Moses, Chou,

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Disease relevance of Glycogen Storage Disease Type I

Glycogen storage disease (GSD) type 1a (von Gierke disease) is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) [1].
Mallory bodies occur only sporadically in abetalipoproteinemia, von Gierke's disease and focal nodular hyperplasia and during hepatitis due to calcium antagonists or perhexiline maleate [2].
The metabolic disturbances in glucose-6-phosphatase deficiency (von Gierke's disease) are the consequence of hypoglycemia, occurring mostly during the night [3].
Phosphate trapping and its metabolic consequences are common phenomena in the experimental injury induced b 2-deoxy-D-galactose and in some hereditary diseases such as uridylyltransferase deficiency galactosaemia, fructose intolerance and glucose-6-phosphatase deficiency [4].

High impact information on Glycogen Storage Disease Type I

Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity [5].
Canalicular adenosine triphosphatase and glucose-6-phosphatase deficiencies were the most common markers of AHF, and AHF of these phenotypes occupied practically all of the focal volume [6].
Glycogen storage disease (GSD) type 1a (von Gierke disease) is caused by a deficiency in glucose-6-phosphatase, the key enzyme in glucose homeostasis catalyzing the terminal step in gluconeogenesis and glycogenolysis [7].
The limited results provide some evidence that the use of a 4.25% glucose solution as an overnight exchange, instead of the usual 1.5% solution, can prevent at least partly the glycogenolysis and consequently the metabolic disturbances of von Gierke's disease [3].

Biological context of Glycogen Storage Disease Type I

Glycogen storage disease type 1a (von Gierke disease, GSD-1A) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis [8].

Gene context of Glycogen Storage Disease Type I

A new model for the membrane topology of glucose-6-phosphatase: the enzyme involved in von Gierke disease [9].

References

Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M. Am. J. Hum. Genet. (1995) [Pubmed]
The Mallory body: morphological, clinical and experimental studies (Part 1 of a literature survey). Jensen, K., Gluud, C. Hepatology (1994) [Pubmed]
Continuous ambulatory peritoneal dialysis (CAPD) in a patient with glucose-6-phosphatase deficiency. Vandepitte, K., Lins, R.L., Daelemans, R., Zachée, P., Kuyken, C., De Broe, M.E. Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis. (1989) [Pubmed]
Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats. Lattke, H., Koch, H.K., Lesch, R., Keppler, D.O. Virchows Arch., B, Cell Pathol. (1979) [Pubmed]
The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Annabi, B., Hiraiwa, H., Mansfield, B.C., Lei, K.J., Ubagai, T., Polymeropoulos, M.H., Moses, S.W., Parvari, R., Hershkovitz, E., Mandel, H., Fryman, M., Chou, J.Y. Am. J. Hum. Genet. (1998) [Pubmed]
Induction of altered hepatic foci in rats by the administration of hypolipidemic peroxisome proliferators alone or following a single dose of diethylnitrosamine. Glauert, H.P., Beer, D., Rao, M.S., Schwarz, M., Xu, Y.D., Goldsworthy, T.L., Coloma, J., Pitot, H.C. Cancer Res. (1986) [Pubmed]
Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. Shelly, L.L., Lei, K.J., Pan, C.J., Sakata, S.F., Ruppert, S., Schutz, G., Chou, J.Y. J. Biol. Chem. (1993) [Pubmed]
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients. Parvari, R., Lei, K.J., Szonyi, L., Narkis, G., Moses, S., Chou, J.Y. Eur. J. Hum. Genet. (1997) [Pubmed]
A new model for the membrane topology of glucose-6-phosphatase: the enzyme involved in von Gierke disease. Hemrika, W., Wever, R. FEBS Lett. (1997) [Pubmed]

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