Abstract
Although it is impractical to apply the test described in this report to all newborn infants in order to detect sporadic cases of galactosaemia, it would be useful to employ it with newborn infants born into families known to be afflicted with this disorder. The test is based on determination of the enzymic activity which is responsible for normal metabolism of galactose-1-phosphate. Individuals who develop galactosaemia are deficient in this enzyme in the erythrocytes. Blood is obtained from the umbilical cord of the newborn infant and the erythrocytes are incubated in a system containing galactose. In the erythrocytes of individuals who would develop galactosaemia if fed the lactose in milk, incubation of the erythrocytes with galactose leads to accumulation of galactose-1-phosphate in the cells. Details of the method are provided and its application to diagnosis of galactosaemia in a newborn is described. With this information in hand a galactose-free diet can be prescribed and the damaging effect of extraneous galactose avoided.
Published Version
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