Carrier detection of sialidosis with partial β‐galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes

Abstract

Lysosomal and plasma membrane sialidase activities in lymphocytes were studied in four patients with sialidosis with partial beta-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.