Mucopolysaccharidosis II. type

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  • L-iduronosulfate sulfate defatase deficiency [1]

Diseases characterized by the following features:

  • accumulation of heparan sulfate
  • men only (GR inheritance)
  • without corneal opacity + thoracolumbar kyphosis [2]
  • OMIM: +300900

heavy form (A)[edit | edit source]

  • starts between the ages of 1 and 3, has faster progression and people with disabilities die by the age of 15, often due to heart failure
  • macrocephalus, prominent forehead, wide nose, hypertrophic gums, malformed teeth, macroglossia
  • short neck, prominent abdomen as a consequence of hepatosplenomegaly
  • hearing impairment
  • dementia
  • cardiomegaly, coronary artery stenosis

light form (B)[edit | edit source]

  • manifestations often begin at a younger school age and the disability can live to be 50 years old
  • slow growth, flexion holding fingers of hands that bother while typing retinitis pigmentosa
  • retinitis pigmentosa
  • normal intellect
  • frequent hearing loss


Links[edit | edit source]

Bibliography[edit | edit source]

  1. *HYÁNEK, Josef, et al. Dědičné metabolické poruchy. 1.. edition. Praha : Avicenum, 1990. vol. 342. ISBN 80-201-0064-4.
  2. DUNGL, P., et al. Ortopedie. 1. edition. Praha : Grada Publishing, 2005. ISBN 80-247-0550-8.
  • HYÁNEK, Josef, et al. Dědičné metabolické poruchy. 1.. edition. Praha : Avicenum, 1990. vol. 342. ISBN 80-201-0064-4.

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External links[edit | edit source]