title: [Identification of Krabbe disease in 2 brothers from East Germany using a new fluorogenic substrate for galactocerebrosidase].
abstract: Activity of several lysosomal hydrolases was studied in skin fibroblasts obtained from two brothers living in GDR. Both patients exhibited distinct clinical symptoms of severe neurovisceral disease. Analysis of the lysosomal enzymes activity enabled to exclude possible occurrence in the patients of such glycolipidoses as Gaucher's disease, Sandhoff's disease, GM1-gangliosidosis and metachromatic leukodystrophy. A new fluorogenic galactoside of lipid nature 6-hexadecanoylamine-4-hethylumbellipheryl-beta-D-galactoside used as a substrate of galactocerebrosidase enabled to detect in the patients distinct decrease in this enzymatic activity and to diagnose Krabb's disease. Biochemical diagnosis of Krabb's disease using the fluorogenic substrate was also confirmed by analysis with labelled galactocerebroside as a substrate.
authors: G Ia
authors: GIa
authors: Vidershaĭn
authors: M
authors: M
authors: Zschiesche
authors: G
authors: G
authors: Seidlitz
mesh_terms: D005347:Fibroblasts / Q000201:enzymology; D005456:Fluorescent Dyes; D005696:Galactosidases / Q000032:analysis*; D005697:Galactosides; D005698:Galactosylceramidase / Q000032:analysis*; D006027:Glycosides; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis*; D008297:Male; D013379:Substrate Specificity; D014468:Umbelliferones
chemical_list: D005456:Fluorescent Dyes; D005697:Galactosides; D006027:Glycosides; D014468:Umbelliferones; D006923:Hymecromone; C047480:6-hexadecanoylamino-4-methylumbelliferyl-galactopyranoside; D005696:Galactosidases; D005698:Galactosylceramidase
vernacular_title: Identifikatsiia bolezni Krabbe u dvukh brat'ev iz GDR s pomoshch'iu novogo fluorogennogo substrata dlia galaktotserebrozidazy.