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Sialidosis: delineation of subtypes by neuraminidase assay
Author(s) -
O'Brien John S.,
Warner Thomas G.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00111.x
Subject(s) - neuraminidase , chemistry , biology , microbiology and biotechnology , biochemistry , enzyme
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 K m which was one‐sixth normal; the other patients had a K m in the normal range.