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alpha-Glucosidase in Pompe's disease.

Abstract
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-alpha-D-glucopyranoside as substrate. These techniques were unnecessary with lymphocytes as the deficiency of acid alpha-glucosidase could be shown directly.
AuthorsD M Broadhead, J Butterworth
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 1 Issue 4 Pg. 153-4 ( 1978) ISSN: 0141-8955 [Print] United States
PMID41974 (Publication Type: Journal Article)
Chemical References
  • Glucosidases
  • alpha-Glucosidases
Topics
  • Clinical Enzyme Tests
  • Glucosidases (metabolism)
  • Glycogen Storage Disease (diagnosis)
  • Glycogen Storage Disease Type II (diagnosis, enzymology)
  • Humans
  • Hydrogen-Ion Concentration
  • Kidney (enzymology)
  • Leukocytes (enzymology)
  • Liver (enzymology)
  • alpha-Glucosidases (metabolism)

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