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=Pathogenesis= | =Pathogenesis= | ||
GSD type 1 results due to defects in the function of microsomal enzyme glucose-6-phosphatase (G6Pase). | *GSD type 1 results due to defects in the function of microsomal enzyme glucose-6-phosphatase (G6Pase). | ||
G6Pase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis. | *G6Pase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis. | ||
*G6Pase is primarily expressed in expressed primarily in the gluconeogenic the liver and kidney. It is also expressed to a lesser extent in the intestine and pancreas. | |||
*80% Cases of GSD 1 are of GSD type 1a. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
Revision as of 18:26, 30 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Pathogenesis
- GSD type 1 results due to defects in the function of microsomal enzyme glucose-6-phosphatase (G6Pase).
- G6Pase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis.
- G6Pase is primarily expressed in expressed primarily in the gluconeogenic the liver and kidney. It is also expressed to a lesser extent in the intestine and pancreas.
- 80% Cases of GSD 1 are of GSD type 1a.