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2437 pages added, reviewed or updated during the last month (last updated: 22/4/2021)


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von Gierke's disease

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Von Gierke's disease is a glycogen storage disease. The mode of inheritance is autosomal recessive.

There is deficiency of glucose-6-phosphatase (as a result of gene G6Pase mutation), and therefore glucose-6-phosphate cannot be converted into glucose. Thus production of glucose from glycogenolysis and gluconeogenesis is not possible.

Von Gierke's disease is a cause of fasting hypoglycaemia.

There may be hyperlipidaemia; this is made from the excess acetyl CoA formed as glycogen is broken down into pyruvate.

If treated with regular protein-rich meals development may be normal.

Last reviewed 01/2018

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