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October 9, 1972

Medical News

JAMA. 1972;222(2):131-140. doi:10.1001/jama.1972.03210020003002

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Enzyme infusions help Hurler's syndrome patients  It may be possible to correct, or at least ameliorate, the clinical manifestations of Hurler's syndrome by administering small amounts of the enzyme, α-L-iduronidase.This is the suggestion of investigators at the National Institutes of Health and University of Illinois College of Medicine, who have identified the enzyme as the missing "corrective factor" in patients with Hurler's syndrome and a closely related disorder, Scheie's syndrome.Hurler's is the most striking and best known of the inborn errors of mucopolysaccharide metabolism. Lysosomal deposits of mucopolysaccharide, found in nearly all cells, are probably responsible for the severe skeletal deformities, hepatosplenomegaly, cloudy corneas, stunted physical and mental growth, and cardiovascular abnormalities seen in these patients.The Bethesda, Md, and Chicago investigators found, however, that only a fraction of the normal cellular level of the missing enzyme is needed to correct these intracellular accumulations of mucopolysaccharides in vitro studies