Martínez M
Autonomous University of Barcelona, Hospital Infantil Vall d'Hebron, Spain.
Neurology. 1990 Aug;40(8):1292-8. doi: 10.1212/wnl.40.8.1292.
In confirmation of previous findings, patients with Zellweger's syndrome had extremely low levels of docosahexaenoic acid (22:6 omega 3) in the brain, liver, and kidneys. The other product of delta 4 desaturation, 22:5 omega 6, was also very significantly decreased, as were the ratios 22:6 omega 3/22:5 omega 3 and 22:5 omega 6/22:4 omega 6, especially in the brain and liver of the Zellweger patients. The infant with pseudo-Zellweger's syndrome also had very low levels of 22:6 omega 3 and of the ratio 22:6 omega 3/22:5 omega 3 in all tissues, especially in the brain, where the index 22:5 omega 6/22:4 omega 6 was also very significantly reduced. The ratio 22:6 omega 3/22:4 omega 6 was markedly decreased in all tissues, in Zellweger's as well as in pseudo-Zellweger's syndrome. The findings reported here strongly reinforce the hypothesis of a new enzymatic defect in peroxisomal disorders involving the desaturation of long polyunsaturated fatty acids, especially of the omega 3 family.
正如先前研究所证实的那样，患有泽尔韦格综合征的患者大脑、肝脏和肾脏中的二十二碳六烯酸（22:6 ω3）水平极低。δ4去饱和作用的另一种产物22:5 ω6也显著降低，22:6 ω3/22:5 ω3和22:5 ω6/22:4 ω6的比值同样如此，尤其是在泽尔韦格综合征患者的大脑和肝脏中。患有假泽尔韦格综合征的婴儿所有组织中的22:6 ω3水平以及22:6 ω3/22:5 ω3的比值也非常低，尤其是在大脑中，其中22:5 ω6/22:4 ω6指数也显著降低。在泽尔韦格综合征和假泽尔韦格综合征患者的所有组织中，22:6 ω3/22:4 ω6的比值均显著降低。此处报告的研究结果有力地支持了一种新的酶缺陷假说，该假说涉及过氧化物酶体疾病中长链多不饱和脂肪酸的去饱和作用，尤其是ω3家族的脂肪酸。
