DIAGNOSIS OF LYSOSOMAL STORAGE DISORDERS USING SAPOSINS AND OTHER MARKERS

摘要

The invention provides methods of diagnosing or monitoring lysosomal storage disorders based on detecting levels of saposins, LAMPs and/or alpha -glucosidase in patient sample. Elevated levels of saposins and/or LAMPs are indicative of a disorder. Elevated levels of alpha glucosidase are indicative of some types of lysosomal storage disorders and decreased levels of alpha glucosidase are indicative of other types of lysosomal storage disorder. In some methods, the profile of elevation of different saposins, LAMPs and alpha glucosidase allows distinction between different types of lysosomal storage disorder.