alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.
alpha-Glucosidase activity was assayed in polymorphonuclear cells and lymphocytes from human peripheral blood with 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate in the presence of sodium taurocholate. The pH vs. activity curve of the alpha-glucosidase indicated that differential estimation between acid and neutral alpha-glucosidases was difficult to perform with polymorphonuclear cells, but easily accessible with lymphocytes. The use of peripheral blood lymphocytes for the enzymatic diagnosis of Pompe's disease seemed to be more reliable than the use of whole leucocytes; this also the case with a classical Pompe's patient. The lymphocytes from the parents had normal or low normal activity of acid alpha-glucosidase in the freshly isolated state, but when cultured with phytohaemagglutinin for 72 h, the stimulated lymphocytes of both parents showed about half the enzyme activity of the cultured controls. It was deemed possible in all probability to identify the carrier state by assay of the enzyme activity in phytohaemagglutinin-stimulated lymphocytes.
D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D005959:Glucosidases / Q000097:blood*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009504:Neutrophils / Q000201:enzymology*; D000520:alpha-Glucosidases / Q000097:blood*
D005959:Glucosidases; D000520:alpha-Glucosidases