Pretorius P J, Reinecke C J, Op't Hof J
S Afr Med J. 1984 May 26;65(21):860-2.
Adrenoleucodystrophy (ALD) is a rare, X-linked inherited disease affecting the central nervous system. The clinical findings overlap those of other related progressive neurological diseases and complicate the diagnosis. In this article biochemical analyses of the very-long-chain fatty acid distribution in specimens obtained from 2 related patients clinically diagnosed as having ALD, which unequivocally confirmed the diagnosis, are described. Analyses of the long-chain fatty acids were performed on postmortem brain tissue samples from the one patient. In the other, who is in the terminal phase of the disease, the long-chain fatty acids were analysed in plasma, erythrocytes and fibroblasts from tissue culture. The limitations of the different analyses for biochemical identification of ALD are discussed.
肾上腺脑白质营养不良（ALD）是一种罕见的X连锁遗传性疾病，会影响中枢神经系统。其临床症状与其他相关的进行性神经疾病有重叠，这使得诊断变得复杂。本文描述了对2例临床诊断为ALD的相关患者标本中极长链脂肪酸分布的生化分析，该分析明确证实了诊断。对其中1例患者的死后脑组织样本进行了长链脂肪酸分析。对另1例处于疾病终末期的患者，分析了其血浆、红细胞和组织培养的成纤维细胞中的长链脂肪酸。文中还讨论了不同分析方法在ALD生化鉴定方面的局限性。
