Moser H W, Bergin A, Naidu S, Ladenson P W
Kennedy Institute for Handicapped Children, Baltimore, Maryland.
Endocrinol Metab Clin North Am. 1991 Jun;20(2):297-318.
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women. Prompt diagnosis is important for genetic counseling and for the institution of therapies aimed to prevent or ameliorate the progressive neurologic disability that often is associated with this illness.
X连锁肾上腺脑白质营养不良（ALD）是一种极长链脂肪酸（VLCFA）代谢紊乱疾病，可通过检测血浆中VLCFA水平升高来诊断，产前则可通过检测培养的羊水细胞或绒毛样本中的VLCFA水平进行诊断。ALD在男性中常导致艾迪生病，在女性中偶尔也会出现。及时诊断对于遗传咨询以及采取旨在预防或改善通常与该疾病相关的进行性神经功能障碍的治疗措施至关重要。
