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| {{Hyperparathyroidism}}
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| {{CMG}}; {{AE}} {{Anmol}} | | {{CMG}}; {{AE}} {{Anmol}} |
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| | | ==Tables== |
| =Pathophysiology= | | {| class="wikitable" |
| ==Pathophysiology== | | |+ |
| *GSD type 1 results due to defects in either hydrolysis or transport of glucose-6-phosphate
| | !Diagnosis |
| *GSD type 1a is due to the deficiency of glucose-6-phosphatase enzyme (G6Pase).
| | !Lab findings |
| *GDS type 1b is due to defect in glucose-6-phosphate transporter (T1 deficiency).
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| *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.
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| *Glucose-6-phosphatase catalyzes the conversion of glucose-6-phosphate to glucose during glycogenolysis and gluconeogenesis.
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| *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.
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| ==Genetics==
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| *80% Cases of GSD 1 are of GSD type 1a.
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| *G6Pase gene is located on chromosome locus 17q21.
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| *GSD type 1 follows autosomal recessive pattern.
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| ==References== | | ==References== |
| {{reflist|2}} | | {{reflist|2}} |
Latest revision as of 17:32, 14 January 2019