Abstract
The glycogen storage diseases (GSDs) comprise a group of rare inherited disorders of glycogen metabolism. The hepatic glycogenolytic forms of these disorders are typically associated with hypoglyce...
Highlights
Glycogen storage diseases (GSDs) are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism
Glycogen storage disease III is caused by reduced activity of the debrancher enzyme, GSD VI by phosphorylase, and GSD IX by phosphorylase kinase
It has often been reported that ketogenic GSDs (KGSDs) have a benign course, but there are significant clinical morbidities associated with some forms of GSD III and IX in particular.[8,9,10]
Summary
Glycogen storage diseases (GSDs) are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. Delivering large amounts of glucose immediately after hypoglycemia is unlikely immediately to lead to glycogen synthesis due to sustained inactivation of glycogen synthase by both protein kinase A and glycogen synthase kinase, due to reduced levels of the intermediate protein phosphatase 1 (PP1).[41,42] Free administered glucose is metabolized by alternative pathways such as conversion to lactate This is one possible explanation for the elevated postprandial lactate levels seen in KGSD. Elevated lactate levels have been documented in other cases of PHKG2 and GSD III and occasionally in PHKA2 deficiency.[8,43,44,45] Physiological data in animal models supporting the hypothesis indicate that PhK and the intermediate PP1 have a crucial role in glucose homeostasis, when there are rapid changes in ambient glucose concentrations.[41,42]. These all remain as plausible mechanisms for cardiomyopathy and end organ damage in KGSD.[48,49]
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