Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

Abstract excerpt

alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome. To date, a number of mutations of the IDUA gene are known in Hurler syndrome, but only a few in Hurler Scheie or Scheie syndrome. The characterization of novel mutations in two...

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