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Sanfilippo syndrome

Pronunciation: san-fi-le'po

Definition: an error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine; characterized by severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler syndrome; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance.

Synonym(s): mucopolysaccharidosis type III

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.