近年来 ,随着分子遗传学的发展 ,X -连锁肾上腺脑白质营养不良病 (ALD)的研究取得了一定的进展。由于ALD基因突变 ,ALDP缺失或功能异常 ,导致VLCFA的β -氧化障碍而聚集于组织中 ,引起中枢神经系统脱髓鞘。除头部MRI检查外 ,VLCFA的检测、ALD突变分析有助于临床诊断。骨髓移植有利于该病的治疗 ,基因治疗是发展方向。 In recent years, with the development of molecular genetics, some progress has been made in the research of X - linked adrenoleukodystrophy (ALD). ALD gene mutations, ALDP loss or dysfunction, leading to VLCFA β - oxidation disorder and accumulation in the organization, causing the central nervous system demyelination. In addition to head MRI examination, VLCFA detection, ALD mutation analysis can help clinical diagnosis. Bone marrow transplantation is conducive to the treatment of the disease, gene therapy is the development direction.