Sunday, 6 April 2014

mucopolysacchridosis

important points on mucopolysacchridosis
-All MPS are AR except: Hunter ds (X-linked)
-Most common MPS: Sanfilippo
-MPS with no corneal clouding: Hunter, Sanfilippo
-MPS with no short stature: Sanfilippo
-MPS with no MR: Schieie
Morquio
Maroteux lamy
Hunter (mild ds)
-MPS with no visceromegaly: Morquio ds
-Gibbus characteristic of: Hurler ds
-Fetal hydrops in:Sly
-No corneal clouding in HUNTER; but vision impaired due
to RETINAL DEGERATION

No comments:

Post a comment