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Previous Volume 350:1932-1934 May 6, 2004 Number 19 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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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 -L-iduronidase, is characterized by multisystemic clinical disease. The -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 . . . [Full Text of this Article]

Source Information

From the Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill.

This article has been cited by other articles:

• Wraith, J. E., Beck, M., Lane, R., van der Ploeg, A., Shapiro, E., Xue, Y., Kakkis, E. D., Guffon, N. (2007). Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human {alpha}-L-Iduronidase (Laronidase). Pediatrics 120: e37-e46 [Abstract] [Full Text]