Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.

Abstract

alpha-Mannosidosis is a lysosomal storage disease resulting from a deficiency of lysosomal alpha-mannosidase activity. Diagnosis of alpha-mannosidosis has traditionally been accomplished by demonstrating reduced alpha-mannosidase activity in leukocytes. We describe a new assay of alpha-mannosidase in serum or plasma that allows specific detection of the enzyme deficiency in alpha-mannosidosis with small, easily obtained sample volumes. The assay utilizes 40 microL of serum or plasma and a fluorescent substrate, 4-methylumbelliferyl-alpha-D-mannopyranoside in sodium acetate buffer, pH 4.0. The mean activity of a control population was 194 (SD 67) mU/L, whereas the activities obtained for four alpha-mannosidosis patients were 0, 17, 17, and 33 mU/L. Comparison with the standard leukocyte alpha-mannosidase assay showed this serum or plasma assay to be equally effective in diagnosing alpha-mannosidosis.

Statistics

050'02'04'06'08'10'12'14'16
Citations per Year

85 Citations

Semantic Scholar estimates that this publication has 85 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Prence1992DiagnosisOA, title={Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.}, author={E M Prence and Marvin R Natowicz}, journal={Clinical chemistry}, year={1992}, volume={38 4}, pages={501-3} }