Medical Term:
Sanfilippo syndrome
Pronunciation: san-fi-lē′pō
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
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