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  • Title: Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.
    Author: Poulos A, Holding J, Carey WF.
    Journal: Clin Chim Acta; 1982 Apr 23; 120(3):331-40. PubMed ID: 6210469.
    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.
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