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*80% Cases of GSD 1 are of GSD type 1a. | *80% Cases of GSD 1 are of GSD type 1a. | ||
*G6Pase gene is located on chromosome locus 17q21. | *G6Pase gene is located on chromosome locus 17q21. | ||
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*GSD type 1 follows autosomal recessive pattern. | *GSD type 1 follows autosomal recessive pattern. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 19:51, 30 October 2017
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Hyperparathyroidism Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Sandbox : anmol On the Web |
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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]
Pathophysiology
Pathophysiology
- GSD type 1 results due to defects in either hydrolysis or transport of glucose-6-phosphate
- GSD type 1a is due to the deficiency of glucose-6-phosphatase enzyme (G6Pase).
- GDS type 1b is due to defect in glucose-6-phosphate transporter (T1 deficiency).
- 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.
- Glucose-6-phosphatase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis.
- This defects hinders the conversion of glucose-6 phosphate to glucose in organs.The inability of glucose-6-phosphate to leave cells leads to hypoglycemia.
Genetics
- 80% Cases of GSD 1 are of GSD type 1a.
- G6Pase gene is located on chromosome locus 17q21.
- GSD type 1 follows autosomal recessive pattern.