Sialidosis: delineation of subtypes by neuraminidase assay |
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| Authors: | John S. O'Brien Thomas G. Warner |
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| Affiliation: | Department of Neurosciences, University of California, San Diego;and School of Medicine, La Jolla. California, U.S.A. |
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| Abstract: | A sensitive assay for acid neuraminidase using 4–methylumbelliferyl-α-D-N-acetylneura-mink acid is described. In skin fibroblasts, patients with sialidosis Types 1 and 2 have severe deficiencies of neuraminidase activity compared with controls. Patients with Type 1 sialidosis have activities which are 10 times higher than those with Type 2 sialidosis, in keeping with their milder clinical involvement. Two Italian patients with Type I sialidosis had a Km which was one-sixth normal; the other patients had a Km in the normal range. |
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| Keywords: | Myoclonus neuraminidase sialidosis subtypes |
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