Prenatal diagnosis of fucosidosis.
A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, om amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases. The fetus was diagnosed as being free from the disease. This conclusion was confirmed after birth by fucosidase determination in plasma and white cells from cord blood, and in the placenta. Fluctuations in fucosidase activity were observed in extracts from cultured amniotic cells at various passages. The possible causes of this variability are discussed.
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D002478:Cells, Cultured; D002675:Child, Preschool; D004186:Disaccharidases / Q000172:deficiency*; D005260:Female; D005312:Fetal Blood / Q000201:enzymology; D005333:Fetus / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D005644:alpha-L-Fucosidase / Q000172:deficiency* / Q000378:metabolism
D004186:Disaccharidases; D008361:Mannosidases; D005644:alpha-L-Fucosidase