Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period.

We assessed lysosomal exohydrolase activities in homogenates of cultured skin fibroblasts and peripheral blood leucocytes of approximately 550 patients referred from throughout Australasia and suspected of having a mucopolysaccharidosis. Of these, 96 patients from 80 families were diagnosed as being homozygous deficient for a particular lysosomal enzyme activity. Clinical phenotype varied considerably within each of the enzyme-deficient states. This did not correlate with the level of "residual" enzyme activity in leucocyte or fibroblast homogenates. It was not always possible to discriminate heterozygotes from normal controls by enzyme assay of leucocyte or fibroblast homogenates in this study of a large number of mucopolysaccharidoses Type II by means of a single hair root assay system.