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  • Sanfilippo syndrome
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SFB Sanfilippo syndrome type B; saphenofemoral bypass; surgical foreign body
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Sanfilippo's syndrome <syndrome> An error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine and severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler's syndrome; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance.
Synonym: type III mucopolysaccharidosis.
(05 Mar 2000)
Sanfilippo, Sylvester <person> 20th century U.S. Paediatrician.
See: Sanfilippo's syndrome.
(05 Mar 2000)
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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.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Sanfilippo's syndrome see under syndrome.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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