[Design of fluorogenic substrates of lysosomal hydrolases and their use in the study and diagnosis of hereditary enzyme defects].

Some issues of the use of synthetic fluorogenic substrates of lysosomal hydrolases are considered for the study of hereditary lysosomal diseases and for their biochemical diagnosis. Results of studies into the design of new fluorogenic substrates of glycosidases and other lysosomal hydrolases, which have been performed for several years at the Institute of Biomedical Chemistry, Russian Academy of Medical Sciences, are given. As alternative substrates of glycosidases, fluorine derivatives of methylumbelliferyl glycosides were investigated, which are especially suitable for detection of glycosidase activity in situ, in chorionic biopsy specimens in particular. New fluorogenic substrates are described for a number of lysosomal enzymes degrading glycoconjugates. These substrates were used to develop fluorometric methods for detecting the enzymes which should replace hard labor-consuming radiometric assays with natural substrates used today for the diagnosis of many mucopolysaccharidoses. The new fluorogenic substrates of lysosomal hydrolases are shown to be of value not only for practical diagnosis of lysosomal diseases, but for the study of molecular bases of hereditary enzymatic defects.