Blood Glucose-6-Phosphate in Heterozygous Carriers and Patients with Liver Glycogen Disease (Von Gierke's Disease)

Hsia and Kot1 have reported that children with liver glycogen disease (von Gierke's disease) and their parents, presumably heterozygous for the disease trait, both have high levels of glucose-6-phosphate and fructose-6-phosphate in red blood cells. If correct, this observation would have very important practical as well as theoretical implications. It would greatly simplify the diagnosis and study of this disease and would open the possibility of its control through a eugenic approach. However, Hsia and Kot presented no evidence that their analytical methods were appropriate or that the materials they measured were in fact glucose-6-phosphate and fructose-6-phosphate. Furthermore, the values these authors cited for their normal control population (glucose-6-phosphate, 50–370 mgm. per 100 gm. red blood cells; fructose-6-phosphate, 120–570 mgm. per 100 gm. red blood cells) are much higher than those reported by other investigators2,3 or expected from theoretical considerations. Accordingly, their findings seemed questionable. We have re-examined this problem with respect to glucose-6-phosphate, using a specific enzymic analytical method. Our results are in sharp disagreement with those of Hsia and Kot.