Type I mucopolysaccharidosis: Enzyme replacement therapy is a new treatment technology
The paper gives the data available in the literature on the clinical presentation, diagnosis, current treatments of 3 clinical variants of type I mucopolysaccharidosis. It demonstrates the authors’ clinical observation of a child with the second clinical variant of type I mucopolysaccharidosis — Hurler-Sheie syndrome. Particular emphasis is placed on the new technologies — pathogenetic treatment with the enzyme replacement drug Aldurazyme. It is shown that the changes in the results of a walking test, the status of the skin, the sizes of parenchymatous organs, and the values of renal glycosaminoglycan excretion should be considered as the most informative criteria for the evaluation of Aldurazyme therapy. Medical genetic counseling is emphasized to be important in preventing mucopolysaccharidoses.