Mucopolysaccharidosis I

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Mucopolysaccharidosis I (MPS I, alpha-L-iduronidase deficiency, Hurler-Scheie syndrome, Hurler syndrome, Scheie syndrome) which is caused by one of a number of mutations of the IDUA gene at 4p16.3 coding for alpha-L-iduronidase is treated with laronidase, bone marrow transplantation or potentially gene therapy. Manifest by several phenotypes depending upon the actual mutation (they are multiple and complex):

  1. Hurler syndrome
    • Coarse facies
    • Corneal clouding
    • Mental retardation
    • Hernias
    • Dysostosis multiplex
    • Hepatosplenomegaly
    • Possible cardiomyopathy associated with endocardial fibroelastosis
  2. Scheie syndrome (usually delayed diagnosis)
    • Stiff joints
    • Clouding of the cornea most dense peripherally
    • Survival to a late age
    • Little if any impairment of intellect
    • Aortic regurgitation
  3. Hurler-Scheie syndrome
    • Facial features as for Hurler's
    • Short stature
    • Corneal clouding
    • Joint stiffening
    • Umbilical hernia
    • Dysostosis
    • Hepatosplenomegaly
    • Minor if any CNS involvement
    • Frequent respiratory infections and perhaps tracheal stenosis
    • Survival is usual into adulthood.
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