title: Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.
abstract: GM2 ganglioside labelled with tritium in the N-acetylneuraminic acid moiety was prepared and used to measure beta-hexosaminidase A activity in cultured humans skin fibroblasts extracts. The latter convert this substrate to the correspondingly labelled GM3 ganglioside which can easily be separated from the substrate by thin-layer chromatography. No cleavage of the N-acetylneuraminic acid group was observed under our conditions. Two methods are described for the determination of GM2-beta-hexosaminidase A activity in fibroblasts. The application of these methods to the diagnosis of Tay-Sachs disease is discussed.
mesh_terms: D000116:Acetylgalactosamine; D002478:Cells, Cultured; D004355:Drug Stability; D005347:Fibroblasts / Q000201:enzymology*; D005678:G(M2) Ganglioside / Q000378:metabolism*; D005732:Gangliosides / Q000378:metabolism*; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D007553:Isotope Labeling / Q000379:methods; D012794:Sialic Acids; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000201:enzymology; D014316:Tritium; D001619:beta-N-Acetylhexosaminidases
chemical_list: D005732:Gangliosides; D012794:Sialic Acids; D014316:Tritium; D005678:G(M2) Ganglioside; D006596:Hexosaminidases; D001619:beta-N-Acetylhexosaminidases; D000116:Acetylgalactosamine