Carrier detection of sialidosis with partial ?-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes

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Abstract
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.