Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide.
A fluorescent substrate 12-(N-methyl-N(7-nitro-2-oxa-1,3-diazol-4-yl) aminododecanoyl sphingosyl beta-D-galactoside ('NBD galactocerebroside') was synthesized and used for the detection of galactocerebrosidase activity. The enzyme determinations using this substrate were found to be extremely sensitive yielding unambiguous results. This substrate was used for the prenatal diagnosis of a fetus affected with Krabbe disease; the diagnosis was later confirmed in the aborted fetus.
D002478:Cells, Cultured; D005260:Female; D005696:Galactosidases / Q000172:deficiency*; D005698:Galactosylceramidase / Q000032:analysis / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology
D005696:Galactosidases; D005698:Galactosylceramidase