Prenatal diagnosis of galactosemia.
We have monitored 3 pregnancies at risk for galactosemia by deficiency in Galactose-1-Phospho uridyl transferase. Galactosemia was diagnosed in the 1st case; heterozygoty in the 2nd, and a "double heterozygoty" in the 3rd. The latter is the first example of such a diagnosis. Post natal confirmation was obtained in the three cases. Arguments are given for the usefulness of this prenatal diagnosis.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology*; D005260:Female; D005693:Galactosemias / Q000175:diagnosis*; D006801:Humans; D009713:Nucleotidyltransferases / Q000172:deficiency*; D011247:Pregnancy; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000378:metabolism
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase