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a form of mucopolysaccharidosis, transmitted as an autosomal recessive trait, resembling hurler's syndrome, except that most of the somatic and skeletal changes are less severe. It occurs in two clinically indistinguishable types: type A, due to deficiency of heparan sulfate sulfamidase, and type B, due to deficiency of N-acetyl-α-d-glucosaminidase. (See Atlas 1, Part F).
Etymology: Sylvester J. Sanfilippo, American pediatrician, 20th century
four heterogeneous, biochemically distinct, but clinically indistinguishable, forms of mucopolysaccharidosis characterized biochemically by excretion of the mucopolysaccharide 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 is normal, Hurler-like features are mild, and hirsutism is generalized; death usually occurs before 20 years of age. The four types are types A through D, each resulting from a different enzymatic defect.