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Clinical Chemistry 28: 301-305, 1982;
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Clinical Chemistry, Vol 28, 301-305, Copyright © 1982 by American Association for Clinical Chemistry

Clinical significance of plasma galactose and erythrocyte galactose-1- phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity

MA Pesce and SH Bodourian

We correlated the clinical symptoms of transferase-deficient galactosemia with the plasma galactose and erythrocyte galactose-1- phosphate concentrations in six galactosemic patients during dietary treatment, in a child before treatment, and in 12 individuals with below-normal erythrocyte hexose-1-phosphate uridylyltransferase activity. All the treated patients were asymptomatic. Normal galactose and either normal or above-normal galactose-1-phosphate concentrations were found. Three of these patients were clinically normal as newborns while ingesting galactose-containing foods and may resemble the asymptomatic Negro galactosemic. The clinical symptoms of galactosemia were observed in the untreated patient, who showed markedly above- normal concentrations of galactose and galactose-1-phosphate, protein and reducing substances in the urine, above-normal bilirubin and alkaline phosphatase in the plasma, with normal values for glucose, aspartate aminotransferase, alanine aminotransferase, and gamma- glutamyltransferase. Clinical improvement in this patient paralleled the decline in erythrocyte galactose-1-phosphate. The individuals with below-normal hexose-1-phosphate uridylyltransferase activity (range 7-- 17 U/g of hemoglobin) had normal galactose and galactose-1-phosphate concentrations and were asymptomatic.




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Copyright © 1982 by the American Association for Clinical Chemistry.