4 結果
A 7-year-old boy with speech delay, hyperactive behavior, and minor neurologic abnormalities had been found in the past to have "intermittent cystinuria." A more detailed investigation revealed hyperlysinemia and hyperlysinuria, with lesser increases in urinary excretion of arginine and cystine. The
A three-year-old asymptomatic boy with hyperlysinemia is presented. The patient's plasma lysine levels have been constantly high (685-1370 mumol/l) and excessive urinary excretion of ornithine, arginine and cystine have been noted. There was no detectable activity of lysine-ketoglutarate reductase
The lysine renal tubular transport was studied in a patient with an unusual trait of the membrane transport inborn error characterized by persistent hyperlysinemia with hyperlysinuria. Plasma and urine concentrations of dibasic amino acids were measured basally and at different time intervals after
An oral loading of lysine (100 mg of lysine-HCL/kg was performed in two patients, 18-and 23-yr-old, with a variant form of citrullinemia. Serum citrulline levels were approximately 10 times higher than control level and lysine levels were within the normal range, in contrast to the classical form of