EFFECT OF GLYCERYL TRIERUCATE THERAPY ON CLINICAL COURSE OF ADRENOLEUKODYSTROPHY

肾上腺脑白质营养不良（ALD）是一种X连锁遗传决定的 影响神经系统白色物质和肾上腺的疾病 皮层 其临床过程是高度可变的。 儿童大脑 形式是最严重的表型，影响约35%的 ALD基因缺陷的患者。 具有这种表型的患者 10岁之前的认知和神经缺陷，并成为 两年内完全残疾。 主要的生物化学 异常是血浆和组织中异常高水平的 饱和极长链脂肪酸（VLCFA），由于受损 降解这些物质的能力。 口服施用 甘油三芥酸酯（GTE）已显示使血浆VLCFA正常化 4周内的水平。 正在调查的问题是， 对神经学上无症状的ALD患者施用GTE可以 降低随后神经功能障碍的频率和严重程度。

Adrenoleukodystrophy (ALD) is an X-linked genetically determined disorder that affects the nervous system white matter and the adrenal cortex. Its clinical course is highly variable. The childhood cerebral form is the most severe phenotype, which affects approximately 35% of patients with the ALD gene defect. Patients with this phenotype develop cognitive and neurologic deficits before age 10 years, and become totally disabled within two years. The principal biochemical abnormality is the abnormally high level in plasma and tissues of saturated very long chain fatty acids (VLCFA) due to the impaired capacity to degrade these substances. The oral administration of glycerol trierucate (GTE) has been shown to normalize plasma VLCFA levels within 4 weeks. The question being investigated is whether administration of GTE to neurologically asymptomatic ALD patients can reduce the frequency and severity of subsequent neurologic disability.