Baslow M H
Nathan S. Kline Institute for Psychiatric Research, Center for Neurochemistry, Orangeburg, NY 10962, USA.
J Mol Neurosci. 2000 Oct;15(2):61-9. doi: 10.1385/JMN:15:2:61.
Canavan disease (CD) is a globally distributed early-onset leukodystrophy. It is genetic in nature, and results from an autosomally inherited recessive trait that is characterized by loss of the axon's myelin sheath while leaving the axons intact, and spongiform degeneration especially in white matter. There is also a buildup of N-acetyl-L-aspartate (NAA) in brain, as well as NAA acidemia and NAA aciduria. The cause of the altered NAA metabolism has been traced to several mutations in the gene for the production of aspartoacylase, located on chromosome 17, which is the primary enzyme involved in the catabolic metabolism of NAA. In this review, an attempt is made to correlate the change in NAA metabolism that results from the genetic defects in CD with the processes involved in the development of the CD syndrome. In addition, present efforts to counter the results of the genetic defects in this disease are also considered.
卡纳万病（CD）是一种全球分布的早发性脑白质营养不良症。它本质上是遗传性的，由常染色体隐性遗传特征导致，其特点是轴突的髓鞘脱失而轴突保持完整，以及特别是在白质中出现海绵状变性。大脑中还会积累N-乙酰-L-天冬氨酸（NAA），同时存在NAA酸血症和NAA酸尿症。NAA代谢改变的原因已追溯到位于17号染色体上的天冬氨酸酰基转移酶生成基因的多个突变，该酶是参与NAA分解代谢的主要酶。在这篇综述中，我们试图将CD中遗传缺陷导致的NAA代谢变化与CD综合征发展过程联系起来。此外，还考虑了目前针对该疾病遗传缺陷后果所做的努力。
