Prenatal diagnosis of fucosidosis.
Pregnancy from a family at risk for fucosidosis was monitored. The fetus was diagnosed as having a carrier state of the disease. alpha-L-fucosidase activity, however, was found to be absent in white blood cells obtained from identical twins after delivery. The diagnostic evaluation of (1) the enzyme activity in amniotic fluid and in cultivated amniotic fluid cells and (2) the presence of fucose rich compound in amniotic fluid are discussed.
D000653:Amniotic Fluid / Q000201:enzymology / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D004186:Disaccharidases / Q000378:metabolism*; D005260:Female; D005643:Fucose / Q000378:metabolism; D005690:Galactose / Q000378:metabolism; D006595:Hexosamines / Q000378:metabolism; D006801:Humans; D008358:Mannose / Q000378:metabolism; D008361:Mannosidases / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012794:Sialic Acids / Q000378:metabolism; D005644:alpha-L-Fucosidase / Q000378:metabolism*
D006595:Hexosamines; D012794:Sialic Acids; D005643:Fucose; D004186:Disaccharidases; D008361:Mannosidases; D005644:alpha-L-Fucosidase; D008358:Mannose; D005690:Galactose