Urinary excretion of lactate, 2-oxoglutarate, citrate, and glycerol in patients with glycogenosis type I.

Growth retardation and lactic aciduria are well-known abnormalities in patients with a deficiency of either glucose-6-phosphatase or glucose-6-phosphate translocase. In 19 patients with glucose-6-phosphatase and two patients with glucose-6-phosphate translocase, growth retardation was quantified by calculating the height standard deviation score. The urinary excretion of lactate and some other metabolites was quantified by calculating the lactate/creatinine, 2-oxoglutarate/creatinine, citrate/creatinine, and glycerol/creatinine ratios in urine. Significant correlations were found between the lactate/creatinine ratio, the 2-oxoglutarate/creatinine ratio, and height SD score. Urinary lactate appeared to respond promptly to changes of the diet, while urinary 2-oxoglutarate responded only slowly, as did growth itself. The citrate/creatinine ratio and the glycerol/creatinine ratio were within the normal range and varied little. It was concluded that the urinary 2-oxoglutarate excretion primarily reflects the severity of the disease as expressed in stunted growth. Thus, while urinary lactate levels are more suitable for monitoring the diet, urinary 2-oxoglutarate levels can be used as an indication for intensive treatment with hyperalimentation.