DIAGNOSIS AND PREVENTION OF LYSOSOMAL STORAGE DISEASES IN RUSSIA

A special programme for the diagnosis and prevention of lysosomal stor age diseases (LSD) was developed in the former USSR. All the patients from 814 families at risk were investigated using biochemical techniqu es. In total, 363 patients with mucopolysaccharidoses (MPS), mucolipid oses, glycoproteinoses, sphingolipidoses and other LSD were diagnosed; 55 families at risk sought prenatal diagnosis and 67 fetuses were inv estigated for MPS (types I, II, IIIA and IIIB, VI), Tay-Sachs disease, Sandhoff disease, GM1-gangliosidosis, metachromatic leukodystrophy, m annosidosis, Gaucher disease and multiple sulphatidosis; 17 affected f etuses were diagnosed and aborted. There was an ethnic distribution of different lysosomal storage diseases in the former USSR.