Deficiency of lysosomal enzymes in storage diseases

The activity of several acid hydrolases has been determined in the liver and leukocytes of patients with lysosomal storage diseases. The livers of the patients with mucopolysaccharidosis had in common a diminished activity of β-galactosidase and an increase in activity of β-glucuronidase, α-fucosidase, N-acetyl-β-hexosaminidase, and acid phosphatase. The activity of α-galactosidase, α-arabinosidase, and arylsulphatase A was diminished in the liver of some of the patients. The β-galactosidase in the leukocytes of patients with mucopolysaccharidosis is normal and no increase of other lysosomal enzymes was noted. A profound deficiency of β-galactosidase has been found in the liver of a patient with generalized gangliosidosis. In the liver of a patient with Fabry's disease, the α-galactosidase was low when compared with the mean normal value.