Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies. |
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Authors: | D A Wenger T J Tarby C Wharton |
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Affiliation: | The B. F. Stolinsky Research Laboratories, Department of Pediatrics, Box C233 University of Colorado Medical Center, Denver, Colorado 80262, USA |
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Abstract: | A patient was previously characterized as having a variant form of GM1 gangliosidosis based on severe deficiencies in β-galactosidase activity in both leukocytes and fibroblasts using 4-methylumbelliferyl-β-D-galactoside and GM1 ganglioside. Reexamination of her cultured fibroblasts revealed a severe deficiency in neuraminidase activity using neuramin lactose, fetuin and 2-(3′-methoxyphenyl)-N-acetyl-D-neuraminic acid as substrates, but normal neuraminidase activity using GM3 ganglioside as a substrate. The presence of normal levels of β-galactosidase activity in leukocytes from the mother of the patient indicates that the β-galactosidase deficiency is not the primary enzyme defect in this type of patient. |
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