Generalized Gangliosidosis: Beta-Galactosidase Deficiency

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Abstract
A profound deficiency (10- to 30-fold) of β-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both p -nitrophenyl-β-D-galactopyranoside and ganglioside GM 1 labeled with C 14 in the terminal galactose. We believe that this enzymic defect is responsible for the accumulation of ganglioside GM 1 and is the fundamental enzyme defect in generalized gangliosidosis.

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