Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.
A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology; D005260:Female; D005698:Galactosylceramidase / Q000032:analysis; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D011247:Pregnancy
D005698:Galactosylceramidase