Scheie syndrome

Last reviewed 01/2018

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.