DOCOSAHEXAENOIC ACID THERAPY IN PEROXISOMAL DISORDERS

在过去一年中，在以下方面取得了重大进展 过氧化物酶体生物发生障碍的遗传学。十一 互补组k，其中每个组被认为代表差异 已经鉴定了它们的基因类型，它们的表型已经被 特色化的。对于其中两种疾病，基因缺陷和突变 已经被定义了。治疗方法涉及到给药 一种微囊化的欧米茄3脂肪酸，二十二碳六酸(DHA)。DHA 在视网膜和大脑中起着重要的作用，严重缺乏 Zellweger综合征和新生儿肾上腺脑白质营养不良的患者。 对13名患者的研究表明，目前提供DHA的方法 是很容易实现的，即使是在严重残疾的患者中也是如此 它导致血浆和红血球中DHA水平的快速正常化 血细胞。安慰剂效果的双盲对照研究 DHA给药对这些疾病的临床病程的影响 正在进行中。

Major advances have been achieved during the last year in respect to the genetics of the disorders of peroxisome biogenesis. Eleven complementation groupsk each of which are presumed to represent distince genotypes, have been identified, and their phenotypes have been characterized. For two of the disorders the gene defect and mutations have been defined. Therapeutic approaches involve the administration of a microencapsulated omega 3 fatty acid, Docosahexaeonic (DHA). DHA has an important role in retina and brain, and is severely deficient in patients with the Zellweger syndrome and neonatal adrenoleukodystrophy. Out studies of 13 patients show that the present method of providing DHA is easily accomplished, even in patients with severe disability, and that it leads to rapid normalization of DHA levels in plasma and in red blood cells. A double-blinded placebo controlled study of the effect of DHA administration on the clinical course of these disorders is now in progress.