PEDIATRICS Vol. 42 No. 3 September 1968, pp. 441-445
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HYPERGALACTOSEMIA AND GALACTOSURIA DUE TO GALACTOKINASE DEFICIENCY IN A NEWBORN

O. Thalhammer M.D.1, R. Gitzelmann M.D.1, and M. Pantlitschko Ph.D., M.D.1

1 Departments of Pediatrics, University, of Vienna and University of Zürich

The detection in a screening program of a newborn infant with galactokinase deficiency is reported. Hypergalactosemia, galactosuria, and mild hepatosplenomegaly were the symptoms. Hypergalactosemia after milk intake was shown to be of rather short duration. It is recommended that blood samples for screening procedures be taken no sooner than 1 hour after the first milk feeding of the day, or, better still, 1 to 2 hours after the second milk feeding of the day.

Accepted on February 27, 1968




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