Sanfilippo syndrome, type D: a spectrophotometric assay with prenatal diagnostic potential

Pediatric Research
R W NowakowskiK B Taylor

Abstract

Sanfilippo syndrome, type D (MPS IIID), is characterized by moderate physical abnormalities, progressive mental deterioration, and deficient activity of N-acetylglucosamine 6-sulfate sulfatase, a lysosomal hydrolase involved in the degradation of heparin, keratan sulfate, and heparan sulfate. To date, demonstration of the enzyme deficiency typically relies on a radiolabeled trisaccharide substrate derived from heparan sulfate. In our study, we have developed a spectrophotometric assay for the determination of N-acetylglucosamine 6-sulfate sulfatase activity using the monosaccharide, N-acetylglucosamine 6-sulfate, as substrate. The reaction mixture was incubated for 6 h at 37 degrees C and, after Dowex chromatography, released N-acetylglucosamine was measured by a modification of the method of Reissig. Assay conditions were optimized for cultured skin fibroblasts and primary cultures of amniotic fluid cells. The pH optimum for each was 5.5. The assay was linear for 24 h and up to 0.1 absorbance units. Activities of the three known MPS IIID skin fibroblast cell lines were more than 4 SD below the skin fibroblast control mean and more than 5 SD below the control mean for amniotic fluid cells. An enzyme deficiency in cultured amnio...Continue Reading

Citations

Jan 1, 1993·Journal of Inherited Metabolic Disease·W HeO P van Diggelen
Jan 1, 1994·Prenatal Diagnosis·A H Fensom, P F Benson
Jan 13, 2006·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Svitlana Garbuzova-DavisPaul R Sanberg
Jan 7, 1998·Analytical Biochemistry·L RodénP Livant

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