type IS mucopolysaccharidosis
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.
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
- onset of these clinical symptoms is usually delayed compared to that in Hurler syndrome patients and the disease progression is less rapi
- (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.
Last reviewed 01/2018