Prenatal diagnosis of galactosaemia.
We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-galactose produced from (14)C-galactose 1-phosphate detected the homozygous mutant fetus.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D002250:Carbon Radioisotopes; D002478:Cells, Cultured; D005260:Female; D005690:Galactose; D005693:Galactosemias / Q000175:diagnosis*; D006600:Hexosephosphates; D006801:Humans; D009243:NAD / Q000032:analysis; D009249:NADP / Q000032:analysis; D009713:Nucleotidyltransferases / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis
D002250:Carbon Radioisotopes; D006600:Hexosephosphates; D009243:NAD; D009249:NADP; D009713:Nucleotidyltransferases; D005690:Galactose