Detection of inborn errors of metabolism. IV. Galactokinase deficiency
- 23 April 2008
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 8 (3) , 179-182
- https://doi.org/10.1111/j.1399-0004.1975.tb01491.x
Abstract
Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubation while both galactosemic and normal cells incorporate considerable amounts. The importance of this is discussed in relationship to antenatal screening.Keywords
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