GLYCOSIDASES IN SKIN AND PLASMA IN HUNTER'S SYNDROME Abnormality of a β‐galactosidase in Skin

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Abstract
Summary: Two patients with Hunter's syndrome (mucopolysaccharidosis type II) were studied. The exact diagnosis could be settled by the finding of clinical symptoms and signs, typical for this form of mucopolysaccharidosis, and of a greatly increased excretion of glycosaminoglycans (acid mucopolysaccharides) in the urine, as well as by the fact that the patients were half‐brothers with unrelated fathers.Analyses of glycosidases in skin demonstrated the existence of low activity of β‐galactosidase in both patients. β‐acetylglucosaminidase was more active in both patients and β‐glucuronidase in one of them than in the controls.In plasma increased activities were noted for β‐glucuronidase and β‐acetylglucosaminidase in both patients and of β‐galactosidase and α‐mannosidase activities in one of them and of α‐fucosidase activity in the other.The results are very similar to those described in patients with Hurler's syndrome (mucopolysaccharidosis type I).