Hunter's Syndrome

Abstract

Deficient activity of beta galactosidase was found in the skin of two siblings with Hunter's syndrome and their mother, a carrier of the sex-linked disorder. Twenty-five and 33 per cent of the normal mean value for beta-galactosidase activity were observed in skin homogenates from the probands, and 54 per cent was present in that of the mother. The average plasma beta-galactosidase activity in the probands and in their mother was one and seven-tenths and one and four-tenths times normal control values respectively. Skin and plasma beta-N-acetylglucosaminidase in the probands was elevated three and one and three-tenths times mean control values respectively. Normal values for this enzyme were found in the skin and plasma of the mother.