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MUCOPOLYSACCHARIDOSIS I-S; SCHEIE SYNDROME

MUCOPOLYSACCHARIDOSIS I-S; SCHEIE SYNDROME
MPS1-S
607016
OMIM = Online Mendelian Inheritance of Men
93474
alpha-L-Iduronidase
3.2.1.76
4p16.3
E76.0
rare (1:600000)
autosomal recessive
mildest of the mucopolysaccharidoses
Laboratory findings    alpha-Iduronidase dec (fibroblasts)
    Dermatan sulfate inc (urine)
    Heparan sulfate inc (urine)
    Mucopolysaccharides inc (urine)
Symptoms    aortic valvular disease
    apnea
    blindness, visual loss, visual impairment
    carpal tunnel syndrome
    coarse facial features
    corneal clouding
    corneal deposits
    dysostosis multiplex
    genu valgum
    glaucoma
    joint stiffness
    myopathy
    obstructive airway disease
    onset, childhood
    retinitis pigmentosa