title: Use of a fluorescent analogue of galactocerebroside for assay of galactocerebroside beta-galactosidase activity in skin fibroblasts from patients with Krabbe's disease.
abstract: In order to diagnose Krabbe's disease (globoid cell leukodystrophy) or its carrier state in patients, galactocerebroside beta-galactosidase (galactosylceramidase) activity in cultured skin fibroblasts was measured with high-performance liquid chromatography using a fluorescent analogue of galactocerebroside, 1-O-galactosyl-2-N-(1-dimethylaminonaphthalene-5-sulfonyl)-sphingosine, as substrate. The enzyme activities in skin fibroblasts of the patients were found to be dramatically reduced when compared with those of controls. The assay can be adopted for diagnostic use in place of assays using radioisotope-labeled natural substrate.
mesh_terms: D002478:Cells, Cultured; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000032:analysis*; D005698:Galactosylceramidase / Q000032:analysis*; D006801:Humans; D007223:Infant; D007700:Kinetics; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D011609:Psychosine / Q000031:analogs & derivatives*; D012867:Skin / Q000201:enzymology*; D013110:Sphingosine / Q000031:analogs & derivatives*
chemical_list: C032551:galactosyl-N-dansyl-sphingosine; D011609:Psychosine; D005696:Galactosidases; D005698:Galactosylceramidase; D013110:Sphingosine