Goldfischer S, Collins J, Rapin I, Neumann P, Neglia W, Spiro A J, Ishii T, Roels F, Vamecq J, Van Hoof F
J Pediatr. 1986 Jan;108(1):25-32. doi: 10.1016/s0022-3476(86)80764-8.
We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal syndrome but whose liver parenchymal cells contained abundant peroxisomes. Peroxisomal L-alpha hydroxy acid oxidase, catalase, and the plasmalogen synthesizing enzyme dihydroxy acetone phosphate-acyl transferase activities were normal; other peroxisomal enzymatic activities, including fatty acyl-CoA oxidase and D-amino acid oxidase, were reduced by 80% to 85%. Oxidation of bile acids and pipecolic acid was also deficient. Autopsy revealed the presence of neuronal heterotopia, renal cortical cysts, adrenal atrophy, and accumulation of very long chain fatty acids. The clinical and pathologic features of this case of "pseudo-Zellweger syndrome" reflect a deficiency in multiple peroxisomal activities rather than a defect in peroxisomal biogenesis. The deficient enzymatic activities require flavin adenine dinucleotide, and the underlying defect may be in the utilization of this cofactor.
我们描述了一名女婴，其临床、化学和病理综合征与泽韦格脑肝肾综合征极为相似，但肝实质细胞中含有丰富的过氧化物酶体。过氧化物酶体L-α羟基酸氧化酶、过氧化氢酶以及缩醛磷脂合成酶二羟基丙酮磷酸-酰基转移酶的活性正常；其他过氧化物酶体酶活性，包括脂肪酰辅酶A氧化酶和D-氨基酸氧化酶，降低了80%至85%。胆汁酸和哌可酸的氧化也存在缺陷。尸检发现存在神经元异位、肾皮质囊肿、肾上腺萎缩以及极长链脂肪酸的蓄积。该例“假性泽韦格综合征”的临床和病理特征反映了多种过氧化物酶体活性的缺乏，而非过氧化物酶体生物发生的缺陷。缺乏的酶活性需要黄素腺嘌呤二核苷酸，潜在缺陷可能在于这种辅因子的利用。
