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mucopolysaccharidosis
(redirected from Scheie syndrome)

   Also found in: Medical, Encyclopedia, Wikipedia 0.01 sec.
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Noun1.mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation


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Cambridge, MA) announced the issuance of a third United States patent involving the lysosomal enzyme alpha-L-iduronidase (IDUA), which is deficient in persons suffering from mucopolysaccharidosis type I (MPS I), also referred to as Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome.
Hopwood's work offers real hope to patient's with Hurler, Hurler-Scheie, and Scheie syndromes," stated Richard F Selden, MD, PhD, president and chief executive officer of Transkaryotic.
As in the initial trial of Aldurazyme, patients in the confirmatory trial are expected to represent the full spectrum of severity of MPS-I, including Hurler, Hurler-Scheie, and Scheie syndromes.
 
 
 
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