Lysosomal Acid Hydrolases in the Liver in Gargoylism Deficiency of 4-methylumbelliferyl-β-galactosidase

Öckerman, P. A. Lysosomal Acid Hydrolases in the Liver in Gargoylism. Deficiency of 4-methylumbelliferyl-β-galactosidase. Scand. J. clin. Lab. Invest. 22, 142-146, 1968.The activites of six lysosomal acid hydrolases were measured in liver biopsy specimens from six patients with gargoylism and in post-mortem tissue from two patients. A marked diminution was noted for the activity of 4-methylumbelliferyl-β-glactosidase in all patients with gargoylism. The deficiency of β-galactosidase did not seem to be due to the presence of an inhibitor in the liver.The activities of β-glucuronidase, β-acetylglucosaminidase, acid phosphatase and α-fucosidase were significantly increased in some of the patients. The activity of α-mannosidase was not significantly different from the values in the controls.