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Carrier detection of sialidosis with partial β‐galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes
Author(s) -
Tsuji Shoji,
Yamada Takamichi,
Ariga Toshio,
Toyoshima Itaru,
Yamaguchi Haruyasu,
Kitahara Yoshisuke,
Miyatake Tadashi,
Yamakawa Tamio
Publication year - 1984
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410150211
Subject(s) - sialidase , beta galactosidase , chemistry , biochemistry , neuraminidase , enzyme , escherichia coli , gene
Lysosomal and plasma membrane sialidase activities in lymphocytes were studied in four patients with sialidosis with partial β‐galactosidase deficiency, four obligate heterozygotes, and three siblings of a patient. Lysosomal sialidase activity in homozygotes was absent, and that in heterozygotes was significantly decreased to 70% of control level. The results indicate that carriers can be detected by the assay of lysosomal sialidase activity of lymphocytes.