mucopolysaccharidoses

abnormal elaboration + storage of mucopolysaccharides

autosomal recessive (except Hunter [type II], X-linked recessive)

Features:

"dysostosis multiplex" (wide medial clavicle, flat ribs, etc.)
short stature
hepatosplenomegaly
coarse facies, ocular disease

Types:

I: Hurler / Scheie
II: Hunter
III: Sanfilippo
IV: Morquio
VI: Maroteaux-Lamy

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© 2002, C.E. Kahn, Jr.
2002-04-18