Moser Hugo W, Moser Ann B, Hollandsworth Kim, Brereton N Hong, Raymond Gerald V
Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
J Mol Neurosci. 2007 Sep;33(1):105-13. doi: 10.1007/s12031-007-0041-4.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumulation of saturated very long chain fatty acids (SVLCFA). Oral administration of "Lorenzo's oil" (LO), a 4:1 mixture of glyceryl trioleate and glyceryl trierucate, normalizes the SVLCFA levels in plasma, but its clinical efficacy and the clinical indications for its use have been controversial for more than 15 years. We review the biochemical effects of LO administration and the rationale for its use and present a current appraisal of its capacity to reduce the risk for the childhood cerebral phenotype when administered to asymptomatic boys and to slow progression of adrenomyeloneuropathy in patients without cerebral involvement. We also present current efforts to provide definitive evaluation of its clinical efficacy and discuss its possible role in the new therapeutic opportunities that will arise if newborn screening for X-ALD is validated and implemented.
X连锁肾上腺脑白质营养不良（X-ALD）是一种损害神经系统的遗传性疾病，与饱和超长链脂肪酸（SVLCFA）的积累有关。口服“洛伦佐油”（LO），即甘油三油酸酯和甘油三芥酸酯按4:1比例混合而成的制剂，可使血浆中SVLCFA水平恢复正常，但其临床疗效及使用的临床指征在15年多来一直存在争议。我们回顾了服用LO的生化效应及其使用的理论依据，并对其在无症状男孩中降低儿童脑型表型风险以及在无脑受累患者中减缓肾上腺脊髓神经病进展的能力进行了当前评估。我们还介绍了目前为明确评估其临床疗效所做的努力，并讨论了如果X-ALD新生儿筛查得到验证并实施，它在新出现的治疗机会中可能发挥的作用。
