Chemke J, Lieberman E, Carmi R, Abarbanel Y, Costeff H, Goldhammer Y, Moser H W
Isr J Med Sci. 1984 Dec;20(12):1123-32.
Adrenoleukodystrophy (ALD) is a fatal X-linked recessive lipid storage disease characterized by progressive CNS demyelination and adrenal insufficiency. Adrenomyeloneuropathy (AMN) is a variant of ALD, with a later onset and more prolonged course, presenting as a peripheral myeloneuropathy. A wide spectrum of clinical manifestations exists in both forms of the ALD complex. Affected infants are clinically normal at birth and in early infancy. Progressive cerebral dysfunction and adrenal failure appear usually between 5 and 10 years of age. Brain white matter macrophages, adrenal cortical cells and other tissues contain characteristic cytoplasmic inclusions. The specific biochemical abnormality in the ALD complex is an accumulation of very long-chain fatty acids (VLCFA) in different tissues and plasma, mainly tetracosanoic (C24:0) and hexacosanoic (C26:0) acids. Metabolic studies have been consistent with an oxidative defect of VLCFA. Clinical, genetic and biochemical data are presented on the first six families with documented ALD in Israel. There appears to be no ethnic predilection. ALD and AMN are found concomitantly, and all clinical forms are present.
肾上腺脑白质营养不良（ALD）是一种致命的X连锁隐性脂质贮积病，其特征为进行性中枢神经系统脱髓鞘和肾上腺功能不全。肾上腺脊髓神经病（AMN）是ALD的一种变异型，起病较晚，病程较长，表现为周围性脊髓神经病。ALD综合征的两种形式都存在广泛的临床表现。患病婴儿在出生时和婴儿早期临床上无异常。进行性脑功能障碍和肾上腺衰竭通常出现在5至10岁之间。脑白质巨噬细胞、肾上腺皮质细胞和其他组织含有特征性的胞质内含物。ALD综合征的特定生化异常是不同组织和血浆中极长链脂肪酸（VLCFA）的蓄积，主要是二十四烷酸（C24:0）和二十六烷酸（C26:0）。代谢研究结果与VLCFA的氧化缺陷一致。本文介绍了以色列有记录的前六个ALD家族的临床、遗传和生化数据。似乎不存在种族倾向。ALD和AMN同时存在，且所有临床类型均有出现。
