Article
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
The Journal of clinical investigation - 1 Aug 1998
Orho M, Bosshard N U, Buist N R, Gitzelmann R, Aynsley-Green A, Blümel P, Gannon M C, Nuttall F Q, Groop L C
Abstract excerpt
Glycogen storage disease type 0 (GSD-0) is a rare form of fasting hypoglycemia presenting in infancy or early childhood and accompanied by high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. The glycogen synthase (GS) activity has been low or immeasurable in liver biopsies, whereas the liver glycogen...
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