β-Galactosidase in mucopolysaccharidoses and mucolipidoses. deficiency of G M1 β-galactosidase in liver and leukocytes

Abstract

β-Galactosidase activities were studied in livers and leukocytes of mucopolysaccharidoses and mucolipidoses (I-cell disease and adult “β-galactosidase deficiency” with macular cherry-red spots). Marked deficiency of hepatic 4-methylumbelliferyl (4MU) and G M1 β-galactosidases was demonstrated in these diseases. Leukocyte G M1 β-galactosidase was also deficient in mucolipidoses. The parents of the patients with I-cell disease and “β-galactosidase deficiency” had normal β-galactosidase activity in plasma and leukocytes, compared to the low enzyme activity in heterozygous carriers of G M1-gangliosidosis. The cause of this enzyme deficiency in these diseases is not clear at present. It seems to be affected secondarily by exgenous factors such as unknown stored materials in the cells. Mucopolysaccharides were not increased in the livers of two cases of I-cell disease and a case of “β-galactosidase deficiency”.