Nakashima Y
Angiology. 1986 Aug;37(8):576-80. doi: 10.1177/000331978603700804.
Reduced activity of serum beta-glucuronidase (EC 3.2.1.31) was found in three patients with Marfan syndrome, two of whom were siblings. The serum beta-glucuronidase levels in the patients ranged from 294 to 439 micrograms (360.7 +/- 73.2, mean +/- SD) of the released P-nitrophenol/100 ml of serum/hour, whereas those of 7 healthy subjects ranged from 564 to 1445 micrograms (836.4 +/- 287.3). This difference was statistically significant (p less than 0.01). Plasma glycosaminoglycan levels in the patients were lower than those in the healthy subjects, owing mainly to the differences in plasma high-sulfated glycosaminoglycan. The correlation coefficients of serum beta-glucuronidase activity with high-sulfated and total plasma glycosaminoglycans were 0.794 and 0.809, respectively (p less than 0.01 and p less than 0.005, respectively). The results suggest that the decreased plasma high-sulfated glycosaminoglycan levels in Marfan syndrome are due to the reduction of serum beta-glucuronidase, which leads to the decreased degradation of macromolecules and, subsequently, the accumulation of the glycosaminoglycans in the tissues.
在3例马方综合征患者中发现血清β-葡萄糖醛酸酶（EC 3.2.1.31）活性降低，其中2例为同胞兄妹。患者血清β-葡萄糖醛酸酶水平为每100毫升血清每小时释放的对硝基苯酚294至439微克（360.7±73.2，平均值±标准差），而7名健康受试者的水平为564至1445微克（836.4±287.3）。这种差异具有统计学意义（p<0.01）。患者血浆糖胺聚糖水平低于健康受试者，主要是由于血浆高硫酸化糖胺聚糖的差异。血清β-葡萄糖醛酸酶活性与高硫酸化和总血浆糖胺聚糖的相关系数分别为0.794和0.809（分别为p<0.01和p<0.005）。结果表明，马方综合征患者血浆高硫酸化糖胺聚糖水平降低是由于血清β-葡萄糖醛酸酶减少，导致大分子降解减少，随后糖胺聚糖在组织中积累。
