Schutgens R B, Wanders R J, Heymans H S, Schram A W, Tager J M, Schrakamp G, van den Bosch H
Department of Pediatrics, University Hospital Amsterdam, The Netherlands.
J Inherit Metab Dis. 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845.
In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved. These include the catabolism of very long chain (greater than C22) fatty acids, the biosynthesis of ether-phospholipids and of bile acids, the catabolism of phytanic acid and the catabolism of pipecolic acid. Many diagnostic tests for Zellweger syndrome have become available in recent years. In classic Zellweger syndrome abnormal C27-bile acids, very long chain fatty acids, dicarboxylic acids and pipecolic acid accumulate in the plasma of the patients. Moreover, depending upon the diet, plasma phytanic acid concentrations may be elevated. In platelets the activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase is deficient; in erythrocytes from young (less than 4 months) patients the plasmalogen content of the phospholipids is decreased. In cultured fibroblasts from skin and from chorionic villus and cultured amniotic fluid cells from Zellweger patients the plasmalogen level is lowered; there is a decreased activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase, alkyl dihydroxyacetonephosphate synthase and phytanic acid oxidase; the de novo biosynthesis of plasmalogens and the peroxisomal beta-oxidation of fatty acids are impaired and the intracellular localization of catalase is abnormal. Dietary treatment of patients with Zellweger syndrome has not so far resulted in an objective clinical improvement. As Zellweger syndrome is usually fatal in early life, prenatal diagnosis of the disease is important.
在脑肝肾（泽尔韦格）综合征患者中，过氧化物酶体的缺失导致了那些过氧化物酶体通常参与的代谢过程受损。这些过程包括极长链（大于C22）脂肪酸的分解代谢、醚磷脂和胆汁酸的生物合成、植烷酸的分解代谢以及哌可酸的分解代谢。近年来，已经有了许多针对泽尔韦格综合征的诊断测试。在典型的泽尔韦格综合征中，异常的C27 - 胆汁酸、极长链脂肪酸、二羧酸和哌可酸在患者血浆中蓄积。此外，根据饮食情况，血浆植烷酸浓度可能会升高。血小板中酰基辅酶A：磷酸二羟丙酮酰基转移酶的活性不足；在年轻（小于4个月）患者的红细胞中，磷脂的缩醛磷脂含量降低。在泽尔韦格患者的皮肤成纤维细胞、绒毛膜绒毛成纤维细胞以及培养的羊水细胞中，缩醛磷脂水平降低；酰基辅酶A：磷酸二羟丙酮酰基转移酶、烷基磷酸二羟丙酮合酶和植烷酸氧化酶的活性降低；缩醛磷脂的从头生物合成和脂肪酸的过氧化物酶体β氧化受损，过氧化氢酶的细胞内定位异常。迄今为止，对泽尔韦格综合征患者的饮食治疗尚未带来客观的临床改善。由于泽尔韦格综合征通常在生命早期致命，因此该疾病的产前诊断很重要。
