Advances in the Treatment of Mucopolysaccharidosis Type I

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Abstract
The mucopolysaccharidoses are a group of lysosomal storage diseases caused by a deficiency of enzymes that degrade glycosaminoglycans.1 Mucopolysaccharidosis type I, an autosomal recessive disorder caused by a deficiency of the enzyme α-L-iduronidase, is characterized by multisystemic clinical disease. The α-L-iduronidase deficiency leads to the progressive accumulation of glycosaminoglycans, resulting in tissue and organ dysfunction. A wide range of clinical presentations, with variations in the severity of symptoms and the extent of central nervous system involvement, is observed in patients with iduronidase deficiency.In 1919, a German pediatrician named Gertrud Hurler provided the first description of mucopolysaccharidosis type I. Characteristics . . .

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