Scheie syndrome

The Morquio syndrome (type IV mucopolysaccharidosis) is associated with the excretion of large amounts of keratan sulfate in the urine.389 The patients appear to have a normal pattern of enzymic activities in the liver lysosomes.399 Types V (Scheie syndrome) and... 

Mucopolysaccharidosis I (Hurler, Hurler-Scheie and Scheie syndromes) a-L-Iduronidase HS, DS Short stature, skeletal dysplasia, coarse facial features, joint stiffness, visceromegaly, cardiac disease, comeal clouding, CNS involvement... 

Laronidase rh-alpha-L-iduronidase precursor rh-IDU (Aldurazyme) 69.9 0.24-0.60 1.5-3.6 IV infusion (1.0) Mucopolysaccaridosis 1 (Hurler and Scheie syndromes)... 

A fluorimetric assay, which employs 4-methylumbelliferyl a-L-idopyrano-syluronic acid for the estimation of oc-L-iduronidase activity has been reported for the detection of Hurler and Scheie syndromes. 

The mutations responsible are likely to be different in the two diseases. Hurler patients are homozygous for the more severe mutant and Scheie patients for the less severe. An intermediate form, the Hurler-Scheie syndrome, appears to be caused by the inheritance of one mutant gene of each type. 

A deficiency of a-L-iduronidase has been reported in a patient with hyper-glycosaminoglycanuria, whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome. ... 

Scheie syndrome is a clinically milder form of Hurler syndrome. Onset of the disease occurs at about age 5 years. Growth and intelligence are normal. The development of joint stiffness is pronounced. Clouding of the corneas is severe. With increasing age the development of aortic valve disease becomes apparent. Median nerve compression and cervical cord compression occur and require immediate intervention. 

What is referred to as the Hurler-Scheie compound disorder is a clinical phenotype intermediate between Hurler syndrome and Scheie syndrome. Onset of the disorder occurs about 3 years of age. Growth is delayed. Intelligence is normal. Corneal clouding and deafness become debilitating. 

Table 18.1c. a L-Iduronidase (Hurler-Scheie syndrome, MPS IH/S, Intermediate) ... 

Sanfilippo syndrome, type C Sanfilippo syndrome, type D Santavuori disease Saposin B deficiency Sarcosine dehydrogenase deficiency Scheie syndrome Schindler disease Segawa disease... 

In the ScHEiE-syndrome clouding of the corneae is present along with stiff joints, and coarse facial features as in the Hurler-Hunter and Sanfilippo syndromes, but the mental retardation is missing. In the urine chondroitin B-sulfate is found. The disease also appears to be autosomal recessively inherited. 

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