title: The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.
abstract: Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2-hexadecanoylamino-4-nitrophenyl-beta-D-galactopyranoside. The relative merits of the three diagnostic methods are discussed.
mesh_terms: D000653:Amniotic Fluid / Q000201:enzymology*; D001921:Brain / Q000201:enzymology; D002478:Cells, Cultured; D005260:Female; D005333:Fetus; D005696:Galactosidases / Q000032:analysis*; D005698:Galactosylceramidase / Q000032:analysis*; D006596:Hexosaminidases / Q000032:analysis*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D012867:Skin / Q000201:enzymology; D001616:beta-Galactosidase / Q000032:analysis*
chemical_list: D005696:Galactosidases; D006596:Hexosaminidases; D001616:beta-Galactosidase; D005698:Galactosylceramidase