PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES
PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES
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DOI：
10.1016/s0022-3476(86)80764-8
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发表时间：
1986-01-01
影响因子：
5.1
通讯作者：
VANHOOF, F
中科院分区：
文献类型：
--
作者：
GOLDFISCHER, S;COLLINS, J;VANHOOF, F
我们描述了一个女婴的临床，化学和病理综合征非常相似的齐薇格综合征肝肾综合征，但其肝实质细胞含有丰富的过氧化物酶体。过氧化物酶体L-α羟酸氧化酶、过氧化氢酶和缩醛原合成酶二羟基丙酮磷酸-酰基转移酶活性正常;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80%-85%。 胆汁酸和哌啶酸的氧化也不足。尸检发现存在神经元异位、肾皮质囊肿、肾上腺萎缩和极长链脂肪酸蓄积。本例“假性齐薇格综合征”的临床和病理特征反映了多种过氧化物酶体活性的缺乏，而不是过氧化物酶体生物合成的缺陷。缺乏酶活性需要黄素腺嘌呤二核苷酸，潜在的缺陷可能是在利用这种辅因子。
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.