Glycogen storage disease type I overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Glycogen storage disease type I''' or '''von Gierke's disease''', is the most common of the [[glycogen storage disease]]s. This [[genetic disease]] results from deficiency of the [[enzyme]] [[glucose-6-phosphatase]]. This deficiency impairs the ability of the [[liver]] to produce free [[glucose]] from [[glycogen]] and from [[gluconeogenesis]]. Since these are the two principal [[metabolism|metabolic]] mechanisms by which the liver supplies glucose to the rest of the body during periods of [[fasting]], it causes severe [[hypoglycemia]]. Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. Both organs function normally in childhood but are susceptible to a variety of problems in the adult years. Other metabolic derangements include [[lactic acidosis]] and [[hyperlipidemia]]. Frequent or continuous feedings of cornstarch or other [[carbohydrate]]s are the principal treatment. Other therapeutic measures may be needed for associated problems. | '''Glycogen storage disease type I''' or '''von Gierke's disease''', is the most common of the [[glycogen storage disease]]s. This [[genetic disease]] results from deficiency of the [[enzyme]] [[glucose-6-phosphatase]]. This deficiency impairs the ability of the [[liver]] to produce free [[glucose]] from [[glycogen]] and from [[gluconeogenesis]]. Since these are the two principal [[metabolism|metabolic]] mechanisms by which the liver supplies glucose to the rest of the body during periods of [[fasting]], it causes severe [[hypoglycemia]]. Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. Both organs function normally in childhood but are susceptible to a variety of problems in the adult years. Other metabolic derangements include [[lactic acidosis]] and [[hyperlipidemia]]. Frequent or continuous feedings of cornstarch or other [[carbohydrate]]s are the principal treatment. Other therapeutic measures may be needed for associated problems. | ||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
Revision as of 19:55, 19 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Glycogen storage disease type I or von Gierke's disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting, it causes severe hypoglycemia. Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. Both organs function normally in childhood but are susceptible to a variety of problems in the adult years. Other metabolic derangements include lactic acidosis and hyperlipidemia. Frequent or continuous feedings of cornstarch or other carbohydrates are the principal treatment. Other therapeutic measures may be needed for associated problems.