Friday, March 2, 2012

Hurler's vs Hunter's syndrome (Mucopolysaccharidoses)

  1. Inhertitance:
    • Hurler's: autosomal recessive
    • Hunter's: X-linked recessive (see MindMap)
  2. Clinical findings:
    • Hurler's: corneal clouding (see MindMap)
    • Hunter's: non-corneal clouding
  3. Deficient enzyme:
    • Hurler's: a-L-irunidase
    • Hunter's: iduronate sulfatase
  4. Accumulated substarte: heparan and dermatan sulfate (both)

1 comment:

  1. Nice info, but a few spelling mistakes - for Hurler's, the deficient enzyme is alpha-L-iduronase; also, it's "substrates". Other than that, thanks! This was very useful.

    ReplyDelete