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.
D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000175:diagnosis / Q000378:metabolism*; D006801:Humans; D006949:Hyperlipidemias / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D007003:Hypoglycemia / Q000209:etiology / Q000378:metabolism; D007659:Ketones / Q000378:metabolism; D007773:Lactates / Q000378:metabolism; D010974:Platelet Aggregation; D014527:Uric Acid / Q000378:metabolism
D007659:Ketones; D007773:Lactates; D014527:Uric Acid