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Mucopolysaccharidoses are kinds of lysosomal storage disorders and form a class of hereditary diseases caused by a deficiency of enzymes (lowered activity of enzymes) involved in degradation metabolism of GAGs. In accordance with the species of the defective enzyme, GAG of a specific species is known to be accumulated in tissues and excreted into body fluids. Clinical manifestations of mucopolysaccharidoses are diversified, but most cases involve coarse facial expression, dysostosis multiplex, and visceromegaly. In some cases, hypacusia, cardiovascular disorders, and mental retardation are also observed. So far researchers have found nearly 50 lysosomal storage disorders and they continue to identify new ones. While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases.
Researchers at Saint Louis University have developed a very accurate and sensitive method for detecting lysosomal storage disorders using bodily fluids such as urine or blood. The method is convenient, quick, and low cost.
The potential benefits of this technology include:
Minimizing the inconvenience of testing for lysosomal storage disorders
Minimizing the time it takes to detect lysosomal storage disorders
Minimizing the cost of testing for lysosomal storage disorders
Minimizing delays in diagnosing individuals with lysosomal storage disorders
This technology has potential application for treating lysosomal storage disorders.
Saint Louis University is seeking a partner to further develop and commercialize this technology.