A 12-year-old girl with GM1 gangliosidosis had been well until 5 years of age when she first developed spasticity and slow progressive intellectual deterioration. When assayed with artificial substrates (p-nitrophenyl-β-galactoside and 4-methylumbelliferyl-β-galactoside), βgalactosidase activity was virtually absent in leukocytes, urinary protein, and cultured fibroblasts. Enzyme activity was also decreased when the natural substrates GM1 ganglioside (5% of control cells) and ceramide lactoside (24% of control cells) were used. Cerebroside βgalactosidase activity was in the high normal range. We propose a new nomenclature for the GM1 gangliosidoses in which this patient would be classified as having the juvenile O variant.
Lowden JA, Callahan JW, Norman MG, Thain M, Prichard JS. Juvenile GM1 Gangliosidosis: Occurrence With Absence of Two β-Galactosidase Components. Arch Neurol. 1974;31(3):200–203. doi:10.1001/archneur.1974.00490390082010
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