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

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Glycosylation & Disease

An Erratum to this article was published on 01 September 1994

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.

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Authors and Affiliations

  1. Glyko, Inc., 81 Digital Drive, 94949, Novato, CA, USA

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

  2. Metabolic Lab., Kaiser Permanente, 10407 Magnolia Blvd, 91601, North Hollywood, CA, USA

    Tullio Giudici

Authors
  1. Christopher M. Starr
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  2. John C. Klock
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  3. Elisa Skop
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  4. Irene Masada
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  5. Tullio Giudici
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Additional information

An erratum to this article is available at http://dx.doi.org/10.1007/BF00919339.

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Starr, C.M., Klock, J.C., Skop, E. et al. Fluorophore-assisted electrophoresis of urinary carbohydrates for the identification of patients with oligosaccharidosis-and mucopolysaccharidosis-type lysosomal storage diseases. Glycosylation & Disease 1, 165–176 (1994). https://doi.org/10.1007/BF00902189

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