Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
The deficiency of beta-galactosidase is demonstrable using the artificial substrate 4-methylumbelliferyl-beta-D-galactopyranoside. The enzyme hydrolyzes the artificial substrate to produce 4-methylumbelliferone, which is measured fluorometrically.(Modified from Ho MW, O'Brien JS: Differential effect of chloride ions on galactosidase isoenzymes: a method for separate assay. Clin Chim Acta 1971 May;32[3]:443-450; Gehler J, Cantz M, Tolksdorf M, et al: Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik 1974 July 15;23[2]:149-158; Cowan T, Pasquali M: Laboratory Investigations of Inborn Errors of Metabolism. In Pediatric Endocrinology and Inborn Errors of Metabolism. Second edition. Edited by K Sarafoglou, GF Hoffman, KS Roth. 2017 pp 1139-1158)
Specimens are processed Monday through Sunday.
Assay is performed: Varies