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MUCOPOLYSACCHARIDOSIS TYPE IH/S; HURLER-SCHEIE SYNDROME

MUCOPOLYSACCHARIDOSIS TYPE IH/S; HURLER-SCHEIE SYNDROME
607015
OMIM = Online Mendelian Inheritance of Men
93476
Alpha-L-iduronidase
3.2.1.76
4p16.3
E76.0
rare (1:435000)
autosomal reessive
mutation in the alpha-L-iduronidase gene (IDUA)
Laboratory findings    Dermatan sulfate inc (urine)
    Heparan sulfate inc (urine)
Symptoms    corneal clouding
    dysostosis multiplex
    heart involvement
    hepatomegaly (large liver)
    hirsutism
    infections (severe or recurrent)
    onset, childhood
    onset, infancy
    pulmonary hypertension
    short stature
    skin, thickened
    small chin or micrognathia
    splenomegaly (large spleen)
    umbilical hernia