BORDERLINE GALACTOSEMIA

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Abstract
A family with combined heterozygosity for classical galactosemia (deficiency of uridyl-transferase) and for galactokinase deficiency is reported. The proband, who had this genetic combination, was detected as newborn in the ordinary screening for galactosemia. A lactose tolerance test at the age of 3 mo. was normal and no symptoms or signs on ordinary diet were shown. The mother of the proband was not only heterozygous for classical galactosemia and galactokinase deficiency but also for the Duarte variant. She had a substantial urine excretion of galactose and high serum galactose after an oral lactose load. She had no clinical symptoms or signs. Patients with combined heterozygosity for galactosemia may develop cataracts and should be followed by clinical examinations.