Gordon B A, Feleki V, Budreau C H, Tyler L
Clin Biochem. 1975 Jun;8(3):184-93. doi: 10.1016/s0009-9120(75)91876-7.
The Sanifilippo syndrome is an inherited dementia caused by defective degradation of heparan sulfate. In the course of its catabolism the heparan sulfate polymer must be desulfated. Heparan sulfate sulfatase activity was demonstrated in homogenates of normal tissues and cultured skin fibroblasts, and in normal urine. This activity was found to be grossly depressed or absent in necropsy specimens of liver and spleen from two Sanfilippo patients. The heparan sulfate sulfatase activity was not demonstrable in urine from eleven, or cultured fibroblasts from four Sanfilippo patients. Activities of alpha-N-acetyl-glucosaminidase, the site of the metabolic defect in the Sanfilippo B variant were either normal or slightly elevated in the Sanfilippo tissues and cultured fibroblasts whereas the mean level in the urine of our Sanfilippo patients was about one-third of that encountered in control urines.
桑菲利波综合征是一种由硫酸乙酰肝素降解缺陷引起的遗传性痴呆。在其分解代谢过程中，硫酸乙酰肝素聚合物必须脱硫。在正常组织、培养的皮肤成纤维细胞匀浆以及正常尿液中均证实有硫酸乙酰肝素硫酸酯酶活性。在两名桑菲利波综合征患者的肝脏和脾脏尸检标本中，发现这种活性严重降低或缺失。在11名桑菲利波综合征患者的尿液或4名患者的培养成纤维细胞中未检测到硫酸乙酰肝素硫酸酯酶活性。α-N-乙酰氨基葡萄糖苷酶的活性在桑菲利波综合征组织和培养的成纤维细胞中要么正常，要么略有升高，而我们的桑菲利波综合征患者尿液中的平均水平约为对照尿液的三分之一，桑菲利波B型变异体的代谢缺陷位点就在该酶。
