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Scheie syndrome; mucopolysaccharidosis-1s; MPS1s

Genetics: alpha-L-iduronidase deficiency Clinical manifestations: 1) onset after 5 years 2) near normal height 3) corneal clouding 4) aortic valvular lesions (aortic insufficiency) 5) finger stiffness 6) peculiar facies 7) normal intelligence Laboratory: - IDUA gene mutation Prognosis: life expectancy: normal

Related

dermatan sulfate heparan sulfate Hurler syndrome; mucopolysaccharidosis-1h; MPS1h iduronidase

General

Hurler-Scheie syndrome; mucopolysaccharidosis-1 & 5; Pfaundler Hurler syndrome; MPS1; MPS5

Properties

ACCUMULATION: heparan sulfate dermatan sulfate DEFICIENCY: iduronidase

References

  1. Cotran et al Robbins Pathologic Basis of Disease, W.B. Saunders Co, Philadelphia, PA 1989 pg 150
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038