| Sanfilippo's s. |
four heterogeneous, biochemically distinct but clinically indistinguishable forms of mucopolysaccharidosis characterized biochemically by excretion of heparan sulfate in the urine and clinically by severe, rapid mental deterioration and relatively mild somatic symptoms. Onset is from 2 to 6 years of age; the head is large, height normal; Hurler-like features (dysostosis multiplex, hepatomegaly) are mild; hirsutism is generalized; death usually occurs before 20 years of age. The four enzymatic types are type A, the most severe, due to deficiency of heparan N-sulfatase; type B, due to deficiency of α-N-acetylglucosaminidase; type C, due to deficiency of heparan-α-glucosaminide N-acetyltransferase; and type D, due to deficiency of N-acetylglucosamine-6-sulfatase. Called also mucopolysaccharidosis III.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Sanfilippo's syndrome |
see under syndrome.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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