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The Sanfilippo A syndrome is an autosomal recessive mucopolysaccharidosis characterized clinically by severe mental retardation and biochemically by storage in tissue and excretion in urine of excessive amounts of heparan sulfate. Since sulfamide groups are present in heparan sulfate, a sulfamidase deficiency could explain the impaired degradation of this polysaccharide. To investigate the enzymic basis of this disease, assays for sulfamidase were performed. Extracts of cultured fibroblasts and post-mortem liver were prepared by suspension of tissues in acetate: NaCl buffer, pH 4.5, containing Triton X-100 (Rohm and Haas Co., Philadelphia, Pa.), sonication, and centrifugation at 10,000 g. The supernatant fluid was incubated with [(35)S]-N-sulfated heparin. The release of inorganic sulfate after 18 h of incubation was determined by chromatography on Sephadex G-25. The liver and fibroblast extracts of patients with the Sanfilippo A syndrome showed a deficiency of sulfamidase. The quantity of heparan sulfate in fibroblasts derived from patients with Sanfilippo A, Hurler's and Hunter's diseases was found to be 7-10%, while it was about 1.25% of the total glycosaminoglycans in fibroblasts of normal controls.

Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER