ENZYMIC EVIDENCE OF A GALACTOSEMIC TRAIT IN PARENTS OF GALACTOSEMIC CHILDREN*

Abstract

Summary new and quantitative assay for the enzyme Gal‐l‐Puridyl transferase in human erythrocytes makes possible a study of the disease galactosemia and the heterozygous carriers of galactosemia, in which this enzyme is involved. Most heterozygous individuals can be identified by having enzymic activities intermediate between those of normal controls and those of the diseased, in whom no discernible activity is present. The authors wish to express appreciation to Dr Herman M. Kalckar, in whose laboratory this work was performed, for his encouragement and valuable suggestions. We are greatly indebted to the following persons for procuring samples of blood used in this study: Drs V. L. O'Donnell, S. P. Dawson, A. Lambdin and especially Drs Jerome Harris, George Donnell and William Bergren.