DOCOSAHEXAENOIC ACID THERAPY IN PEROXISOMAL DISORDERS

过去一年，在以下方面取得了重大进展： 过氧化物酶体生物合成障碍的遗传学。 十一 互补群k，其中每一个都被认为代表不同的 基因型，已经确定，他们的表型已经 表征了 对于其中两种疾病， 已被定义。 治疗方法包括给药 微囊化的欧米茄3脂肪酸，二十二碳六烯酸（DHA）。 DHA 在视网膜和大脑中起着重要作用， Zellweger综合征和新生儿肾上腺脑白质营养不良患者。 我们对13名患者的研究表明，目前提供DHA的方法 很容易实现，即使是严重残疾的患者， 它导致血浆和红细胞中DHA水平迅速正常化， 血细胞 一项双盲安慰剂对照研究 DHA给药对这些疾病的临床过程中， 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.