Nagyerdei krt 98, Debrecen, Hungary, H-4032.
Curr Pharm Biotechnol. 2012 Oct;13(13):2477-84. doi: 10.2174/138920112804583069.
Fabry disease is an X chromosome linked disorder caused by the inherited deficiency of lysosomal enzyme α- galactosidase A. The deficiency results in abnormal degradation of certain glycosphingolipids. Although the disease is known for more than hundred years and the underlying molecular basis is getting to be well defined, there are still a lot of unanswered questions regarding the different clinical presentations, available diagnostic procedures and therapeutic interventions. The scope of the article is to review the molecular basis of Fabry disease and summarize the available data about Fabry disease cardiomyopathy, highlight the controversies of current knowledge and evaluate future research directions.
法布里病是一种 X 染色体连锁遗传疾病，由溶酶体酶 α-半乳糖苷酶 A 的遗传性缺乏引起。这种缺乏导致某些糖鞘脂的异常降解。尽管这种疾病已经被人们认识了一百多年，其潜在的分子基础也越来越明确，但对于不同的临床表现、现有的诊断程序和治疗干预措施，仍有许多问题尚未得到解答。本文的目的是回顾法布里病的分子基础，并总结有关法布里病心肌病的现有数据，强调当前知识的争议，并评估未来的研究方向。
