Biochemical heterogeneity of the sanfilippo syndrome: Preliminary characterization of two deficient factors

Abstract

Fibroblasts cultured from the skin of Sanfilippo patients show excessive accumulation and prolonged turnover time of sulfated mucopolysaccharide. This abnormality can be corrected by a macromolecular factor contained in the secretions of fibroblasts of differing genotype, as well as in normal human urine. By cross-correction tests, the Sanfilippo fibroblasts can be subdivided into two groups, each deficient in a different factor. Analytical polyacrylamide gel electrophoresis shows the two factors, which are probably proteins, to have a similar molecular weight (ca. 200,000) but to differ in charge at pH 8.5.