EFFECT OF GLYCERYL TRIERUCATE THERAPY ON CLINICAL COURSE OF ADRENOLEUKODYSTROPHY

肾上腺脑白质营养不良(ALD)是一种遗传决定的X连锁疾病 影响神经系统、脑白质和肾上腺的疾病 大脑皮层。它的临床病程是高度多变的。儿童时期的大脑 Form是最严重的表型，它影响大约35%的 存在ALD基因缺陷的患者。具有这种表型的患者会发生 认知和神经缺陷，在10岁之前，并成为 两年内完全残废。主要的生物化学 异常是指血浆和组织中的异常高水平。 受损者的饱和超长链脂肪酸(VLCFA) 降解这些物质的能力。口服给药 甘油三芥酸(GTE)可使血浆VLCFA正常化 4周内血药浓度。正在调查的问题是 对神经系统无症状的ALD患者应用GTE可以 减少随后的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.