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Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial β‐galactosidase deficiency
Author(s) -
Tsuji Shoji,
Yamada Takamichi,
Tsutsumi Atsuko,
Miyatake Tadashi
Publication year - 1982
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.410110517
Subject(s) - neuraminidase , sialic acid , enzyme , sonication , neuraminic acid , enzyme assay , biology , biochemistry , chemistry , microbiology and biotechnology , chromatography
Abstract Neuraminidase deficiency has been demonstrated in cultured skin fibroblasts of patients who have adult type sialidosis with partial β‐galactosidase deficiency. A substantial amount of residual enzyme activity has been observed in leukocytes, however. To explain this discrepancy, the nature and distribution of the enzyme were studied. Neuraminidase activity was higher in lymphocytes than in granulocytes of normal controls. In patients' lymphocytes, neuraminidase activity was profoundly decreased and total sialic acid contents were increased 2.3‐fold. Two neuraminidases, one sonication‐labile and the other sonication‐stable, were found in lymphocytes; the former was predominant in cultured skin fibroblasts. The defective enzyme in this disorder was found to be the sonication‐labile neuraminidase in both cultured skin fibroblasts and lymphocytes.