Chancellor A M, Glasgow G L, Lambie N K, Synek B J
Department of Neurology, Auckland Hospital.
N Z Med J. 1989 May 10;102(867):220-2.
Adrenoleukodystrophy is an inherited metabolic disorder resulting in accumulation of fatty acids in body tissues, principally the central nervous system. We report a recently identified kindred with this disease to highlight the varied clinical manifestations and recent advances in diagnosis and treatment.
肾上腺脑白质营养不良是一种遗传性代谢紊乱疾病,会导致脂肪酸在身体组织中蓄积,主要是在中枢神经系统。我们报告了一个最近确诊的患有这种疾病的家族,以突出其多样的临床表现以及诊断和治疗方面的最新进展。