肾上腺脑白质营养不良(adrenoleukodystrophy,ALD)是一种主要侵犯大脑白质、肾上腺等器官的X-连锁隐性遗传病。根据临床表现和发病时间,可将ALD分成儿童脑型、肾上腺脊髓神经病型等7种表型。各型的共同特征是极长链饱和脂肪酸(very long chain fatty acids,VLCFA)在体内蓄积,引起大脑白质脱髓鞘、肾上腺功能不全等病 Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that primarily affects organs such as the white matter and adrenal of the brain. According to the clinical manifestations and onset time, ALD can be divided into children with brain, adrenal spinal cord neuropathy and other seven phenotypes. The common feature of each type is that very long chain fatty acids (VLCFA) accumulate in the body, causing demyelination of the white matter, adrenal insufficiency and other diseases