Goi Giancarlo, Massaccesi Luca, Burlina Alessandro P, Baquero Herrera Claudia J, Lombardo Adriana, Tettamanti Guido, Burlina Alberto B
Department of Medical Chemistry, Biochemistry and Biotechnology, University of Milan, Via Saldini, 50, 20133 Milan, Italy.
Biochim Biophys Acta. 2005 Sep 25;1741(3):300-6. doi: 10.1016/j.bbadis.2005.05.002.
Fabry disease results from a deficiency in the activity of alpha-d-galactosidase A and subsequent accumulation of neutral glycosphingolipids in lysosomes. This study investigated whether lysosomal enzymes can indicate biochemical changes in the lysosomal apparatus induced by enzyme replacement therapy (ERT).
Eight patients were monitored by clinical and biochemical tests and several lysosomal glycohydrolases were measured in plasma and leucocytes.
Before starting ERT, beta-d-glucuronidase in leukocytes was markedly increased. After 1 month of therapy, enzyme levels dropped in all patients. In the patients who regularly followed the therapy, the enzyme levels remained stable for the next 20 months. In one patient who interrupted therapy for 2 months, the enzyme levels rose again.
Lysosomal enzymes can be useful for monitoring biochemical changes in patients with Fabry disease receiving ERT. Though these findings refer to only a small number of patients, the correlation between beta-d-glucuronidase levels and ERT is interesting and might serve as a basis for further studies to define the potential of this enzyme in monitoring the effects of ERT in lysosomal storage disorders.
法布里病是由于α - d - 半乳糖苷酶A活性缺乏以及随后中性糖鞘脂在溶酶体中蓄积所致。本研究调查了溶酶体酶是否能够指示酶替代疗法（ERT）诱导的溶酶体细胞器中的生化变化。
通过临床和生化检测对8例患者进行监测，并测定血浆和白细胞中的几种溶酶体糖苷水解酶。
在开始ERT之前，白细胞中的β - d - 葡萄糖醛酸酶显著升高。治疗1个月后，所有患者的酶水平均下降。在规律接受治疗的患者中，酶水平在接下来的20个月内保持稳定。在1例中断治疗2个月的患者中，酶水平再次升高。
溶酶体酶可用于监测接受ERT的法布里病患者的生化变化。尽管这些发现仅涉及少数患者，但β - d - 葡萄糖醛酸酶水平与ERT之间的相关性很有趣，可能作为进一步研究的基础，以确定该酶在监测溶酶体贮积症中ERT效果方面的潜力。
