Total Pageviews

Thursday, 12 January 2012

Mucopolysaccharidosis I and II (Hunter's and Hurler's)

- MPS are group of metabolic disorder caused by absence or malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans (lysosomal storage disorder)

MPS type I (Hurler's syndrome)
- autosomal recessive
- cloudy cornea
- severe mental retardation
- gibbus
- coarse facies
- hepatosplenomegaly

MPS type II (Hunter's syndrome)
- X-linked
- clear cornea
- scoliosis, no gibbus
- less severe mental retardation

No comments: