Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.
Galactosylceramide beta-galactosidase activity was assayed in cultured amniotic fluid cells from two pregnancies at risk for Krabbe's leucodystrophy. The elective termination of one pregnancy was carried out after demonstration of a severe deficiency of galactosylceramide beta-galactosidase activity. The diagnosis of Krabbe's leucodystrophy in the affected fetus was confirmed enzymatically by a deficiency of galactosylceramide beta-galactosidase inbrain, liver, kidney, and cultured skin fibroblasts, and histologically by the ultrastructural demonstration of the typical intracellular inclusions in cells of the spinal cord.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology*; D001921:Brain / Q000201:enzymology / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D005698:Galactosylceramidase / Q000172:deficiency*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D011247:Pregnancy; D013116:Spinal Cord / Q000473:pathology
D005696:Galactosidases; D005698:Galactosylceramidase