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α‐Glucosidase in Pompe's disease
Author(s) -
Broadhead D. M.,
Butterworth J.
Publication year - 1978
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805584
Subject(s) - maltose , isoelectric focusing , glycogen storage disease type ii , isoelectric point , biochemistry , substrate specificity , chemistry , enzyme , enzyme replacement therapy , substrate (aquarium) , disease , biology , medicine , ecology
Isoelectric precipitation at pH 5.0 and the use of the inhibitors, turanose, maltose and citrate, enabled the diagnosis of Pompe's disease to be made in dextran‐isolated leucocytes using 4‐methylumbelliferyl‐α‐D‐gluco‐pyranoside as substrate. These techniques were unnecessary with lymphocytes as the deficiency of acid α‐glucosidase could be shown directly.