hyperlysinemias/arginine

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Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria.

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Prijava Registriraj se

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

Hyperlysinemia without clinical findings.

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Prijava Registriraj se

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

Lysine transport in human kidney.

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Prijava Registriraj se

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

Lysine intolerance in a variant form of citrullinemia.

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Prijava Registriraj se

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

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