Secondary metabolic changes in von Gierke's disease (Type I glycogen storage disease)

Deficiency of glucose-6-phosphatase in Type I glycogen storage disease (GSD) results in hypoglycemia and excessive accumulation of glucose-6-phosphate. As a result, lactic acid, uric acid, and lipids are formed as end-products. The formation of these metabolites are discussed with an emphasis on monitoring therapeutic progress. In addition, hyperlipidemia and associated changes in apolipoproteins are considered as indices of the clinical course.