IDUA and Scheie syndrome: Thus, the diagnosis of MPS I is established in a proband with the suggestive clinical and excessive urinary excretion of glycosaminoglycans and either detection of deficient activity of the lysosomal enzyme alpha-L-iduronidase or identification of mutations or deletions in the alpha-L-iduronidase gene on molecular genetic testing [1, 3, 6, 7].