Glucose-6-Phosphate Levels and Liver Glycogen Disease

Many congenital metabolic disorders can be diagnosed by a relatively simple blood or urine test. Furthermore, in some recessive hereditary diseases, asymptomatic heterozygous carriers can be identified by appropriate biochemical procedures. Recently, Hsia and Kot 1 reported that identification of patients with liver glycogen disease (von Gierke's disease) as well as heterozygous carriers of the presumed causative genetic trait, was possible by determination of phosphorylated hexoses in circulating erythrocytes. They claimed that children with this disease, and their parents, have elevated levels of glucose6-phosphate and fructose-6-phosphate in their red blood cells. These findings have since been cited in other publications. 2,3 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 up the possibility of its control through a eugenic approach. However, a disturbing feature of the report of Hsia and Kot