A micro-radiochemical assay for α-1,4-glucosidase and its use in the assessment of type II glycogenosis (pompe's disease)

• Published in: Clinica chimica acta Vol. 77; no. 3; pp. 337 - 342
• Main Authors: Nelson, P.V., Carey, W.F., Pollard, A.C.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.06.1977
• Subjects: Amnion - cytology; Amnion - enzymology; Cell Line; Clinical Enzyme Tests; Fibroblasts - enzymology; Glucosidases - metabolism; Glycogen Storage Disease - diagnosis; Glycogen Storage Disease Type II - diagnosis; Humans; Hydrogen-Ion Concentration; Leukocytes - enzymology; Maltose - pharmacology; Time Factors
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/0009-8981(77)90238-8

An assay for α-1,4-glucosidase (acid maltase) activity which is deficient in Pompe's disease is described. The assay can be used to measure the enzyme in cultured skin fibroblasts, cultured amniotic cells and peripheral blood leucocytes. [U- 14C] Maltose is used as the substrate in a total assay volume of 8 μl. The product, [U- 14C]glucose, is separated from the substrate by cellulose thinlayer chromatography. The procedure permits replicate assays from 400 μl whole blood and from amniotic cells in primary culture. Discrimination of the heterozygous Pompe state appears to be facilitated.