Fluorophore-assisted electrophoresis of urinary carbohydrates for the identification of patients with oligosaccharidosis-and mucopolysaccharidosis-type lysosomal storage diseases View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-07

AUTHORS

Christopher M. Starr, John C. Klock, Elisa Skop, Irene Masada, Tullio Giudici

ABSTRACT

Lysosomal storage diseases result from defects in the activity of the lysosomal enzymes that break down macromolecules in the cell. These enzyme defects contribute to over 30 separate storage diseases that result in nearomuscular and intellectual impairment and, in some cases, early childhood death. This report describes a new method for identifying defects in the lysosomal enzymes and in the metabolic pathway that functions in the degradation of complex carbohydrates. The method involves identifying ‘abnormal’ carbohydrates in the urine of affected patients using fluorescent carbohydrate tags and polyacrylamide gel electrophoresis. Currently, the method can be used as a simple screen for the identification of at least 12 different lysosomal storage diseases using a single electrophoretic procedure. Both oligosaccharidoses and mucopolysaccharidoses (MPS) can be identified, and in many cases the MPS subtype can be determined. In addition, the method can be used to confirm enzymatically the results of the initial screening test. We believe that this method will become extremely useful not only in the diagnosis of these diseases but in the management of patients on therapy. More... »

PAGES

165-176

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00902189

DOI

http://dx.doi.org/10.1007/bf00902189

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004931578


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