Discussion :
Corneal clouding suggestive of Mucopolysaccharidosis {MPS}. The mucopolysaccharidoses {MPS} are a group of inherited lysosomal storage disorders that are caused by a deficiency of specific lysosomal enzymes required for the degradation of glycosaminoglycans {GAGs} {mucopolysaccharides}. Typical features include hepatosplenomegaly, coarse features, corneal clouding and skeletal dysostosis. No treatment is available for the underlying disorder, and care must be supportive.
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Correct Answers : | 27% |
Last Shown : Jul 2005
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