Detection of inborn errors of metabolism: galactosemia.
Radioautography of cultured, human, galactosemic and nongalactosemic cells shows that, in the presence of 0.05M D-galactono-gamma-lactone, the former incorporate much less galactose in acid-insoluble form than the latter. Presumably the lactone inhibits incorporation of the labeled galactose into pathways which do not require galactose-1-phosphate uridylyltransferase activity. Definite differences between the galactosemic and nongalactosemic condition can be demonstrated with as few as 100 to 1000 cells. This approach may be useful in facilitating prenatal detection of several kinds of inborn errors of metabolism.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism; D000653:Amniotic Fluid / Q000378:metabolism; D002245:Carbon Dioxide / Q000096:biosynthesis; D002247:Carbon Isotopes; D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000378:metabolism; D005260:Female; D005347:Fibroblasts; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis* / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism; D006801:Humans; D007223:Infant; D007700:Kinetics; D007783:Lactones / Q000494:pharmacology; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin; D014316:Tritium
D002247:Carbon Isotopes; D005732:Gangliosides; D007783:Lactones; D014316:Tritium; D002245:Carbon Dioxide; D005690:Galactose