Arginase and Free Amino Acids in Hyperargininemia: Leukocyte Arginine as a Diagnostic Parameter for Heterozygotes

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Abstract
Arginase activity and free amino acids were measured in plasma, erythrocytes and leukocytes of patients with hyperargininemia and in controls. There is no arginase activity in the leukocytes and erythrocytes of homozygous patients; in heterozygotes it is normal to low. The activity is 50-100 times higher in leukocytes than in erythrocytes. In controls, patients and heterozygotes, amino acid concentrations are higher in leukocytes than in plasma and erythrocytes. In addition to the increased Arg in the 3 blood compartments (the result of an arginase deficiency), there is also an obvious decrease of Asp in the erythrocytes of the patients. The Arg concentration in leukocytes of heterozygotes is as high as in homozygotes and can therefore be used as a diagnostic parameter for heterozygotes.