Mucopolysaccharidoses

Posted by on September 26, 2010 Leave a comment (0) Go to comments

Type I-Hurler’s

  • Autosomal recessive.
  • Alpha L Iduronidase deficiency.
  • Coarse face,Thick skin,severe MR.
  • Gargolylism,Corneal opacity.
  • Dermatan and Heparan sulfate in urine.

Type -II Hunter’s

  • Xlinked recessive.
  • Iduronate sulfatase deficiency.
  • Mild Hurler’s+aggressive behavior,deafness.
  • No corneal opacity.

Mnemonic:Hunter aims for X and has a clear vision

Biochemistry

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