This site is intended for healthcare professionals
General Practice Notebook
Medical search

type IS mucopolysaccharidosis

FREE subscriptions for doctors and students... click here
You have 3 open access pages.

Scheie syndrome is a mucopolysaccharidosis where the underling defect is deficiency of alpha-L-iduronidase. This is the same deficiency seen in Hurler's syndrome, however in Scheie syndrome it only affects dermatan sulphate, the accumulation of which in tissues is responsible for the clinical manifestations.

  • Scheie syndrome patients typically display variable clinical symptoms that can include coarse facial features, corneal clouding, cardiac valve disease, joint stiffness, clawed hands, malaise/fatigue and other somatic features
    • onset of these clinical symptoms is usually delayed compared to that in Hurler syndrome patients and the disease progression is less rapi
      • in some patients with an attenuated form of the disorder, intelligence can be normal, stature can be relatively normal and the patient can have a normal lifespan

Reference:

  1. (1) E.F. Neufeld and J. Muenzer, The mucopolysaccharidoses. In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle, Editors, The Metabolic Basis of Inherited Disease (7th ed.),, McGraw-Hill, New York (1995), pp. 2465-2494.

Links:

General Practice Notebook
General Practice Notebook
The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions LtdĀ®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions LtdĀ® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook.