Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.
- 1 May 1983
- journal article
- Vol. 35 (3) , 520-2
Abstract
Two variants of type-ABGM2-gangliosidosis can be distinguished by using p-nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside (PNP-GlcNAc-6-SO4) as substrate. One of the variants is caused by a deficiency of the activator for the hydrolysis of GM2-ganglioside. The beta-hexosaminidase A from this variant has a normal activity toward both PNP-GlcNAc and PNP-GlcNAc-6-SO4. A second variant caused by a defect in the enzyme, beta-hexosaminidase A, exhibits severely attenuated activity toward PNP-GlcNAc-6-SO4 but normal activity toward PNP-GlcNAc.This publication has 7 references indexed in Scilit:
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