The Journal of Experimental Medicine
3rd Skeletal Biology and Medicine Symposium
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The Journal of Experimental Medicine, Vol 118, 359-370, Copyright © 1963, by The Rockefeller Institute

ARTICLE

THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES : A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT



Arthur Robinson M.D.1

1 From the Department of Biophysics and the Department of Pediatrics, University of Colorado Medical Center, Denver

A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented.

The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test unambiguously identified the individual's status as normal, heterozygotic carrier, or homozygously defective.

Use of the test in genetic counseling and genetic epidemological studies is discussed.

 Submitted on May 6, 1963


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