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Scheie syndrome

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Scheie syndrome
Alpha-l-iduronidase deficiency, mucopolysaccharidosis type IS An AR condition in which a deficit of l-iduronidase results in inefficient degradation and intracellular accumulation of mucopolysaccharides; involvement is less severe than MPS type IH–Hurler syndrome Clinical SS is manifest in early childhood as short, coarse features, a broad mouth with full lips, inguinal hernias, cataracts, hepatosplenomegaly, aortic incompetence, stiff joints, with development of claw hands and deformed feet, clouding of cornea, prolonged survival Lab ↑ dermatan sulfate in urine


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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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