Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
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.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002460:Cell Line; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005690:Galactose; D005693:Galactosemias / Q000175:diagnosis; D006801:Humans; D010770:Phosphotransferases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D010770:Phosphotransferases; D005690:Galactose