Abstract
Intrigued by the persistent growth retardation of some glucose-6-phosphatase-deficient patients, we investigated the urinary excretion of lactate, 2-oxoglutarate and citrate, reflecting organic acid overproduction, and glycerol, reflecting impaired gluconeogenesis, in 17 patients with type IA and 1 patient with type IB glycogenosis. The urine was collected during 8-10 successive days twice daily.
The mean lactate-creatinine ratio (mM/mM) ranged from 0.27 to 11.17 (normal 0.010 to 0.058, N=36) in 5 patients with a height < P3. The lactate excretion in these patients varied considerably during successive days and less during gastric drip feeding at night. The mean lactate-creatinine ratio in the other patients was more constant and ranged from 0.04 to 0.34. The mean 2-oxoglutarate-creatinine ratio (mM/mM) ranged from 0.17 to 0.84 (normal 0 to 0.05, N=15) in 4 of 5 growth retarded patients. In the other patients it ranged from 0.01 to 0.43. The 2-oxoglutarate excretion per patient varied little. The mean citrate-creatinine ratio (mM/mM) ranged from 0.03 to 0.84 in all patients (normal 0.12 to 0.73, N=15). The mean glycerol-creatinine ratio (mM/mM) ranged from 0.01 to 0.11 (normal 0.005 to 0.03, n=15).
We conclude that the lactate-creatinine ratio reflects both the adequacy of the dietary treatment and the severity of the disease, whereas the 2-oxoglutarate-creatinine ratio reflects mainly the latter. The citrate-creatinine ratio and the glycerol-creatinine ratio do not give important information.
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Fernandes, J., Berger, R., Stoker-De Vries, S. et al. ORGANIC ACIDURIA IN PATIENTS WITH GLYCOGENOSIS TYPE I. Pediatr Res 19, 1075 (1985). https://doi.org/10.1203/00006450-198510000-00042
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DOI: https://doi.org/10.1203/00006450-198510000-00042