Kaiser E, Kramar R
Institut für Medizinische Chemie der Universität Wien, Vienna, Austria.
Clin Chim Acta. 1988 Mar 31;173(1):57-80. doi: 10.1016/0009-8981(88)90357-9.
Peroxisomes have been shown to participate in a variety of pathological processes. Peroxisomal anomalities are central features of Zellweger's cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease and several other genetic metabolic disorders (pseudo-Zellweger syndrome, Leber congenital amaurosis, cerebrotendinous xanthomatosis, rhizomelic chondrodysplasia punctata). In disorders with general loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease) an accumulation of very long-chain fatty acids and pathological bile acids are found. Patients have a defective synthesis of plasmalogens and show increased excretion of dicarboxylic acids of medium chain length and of pipecolic acid in the urine. These anomalities which are due to the lack of peroxisomal enzymes, supply the basis for clinical laboratory tests. The study of these peroxisomal disorders has presented valuable information on the normal function of peroxisomes.
过氧化物酶体已被证明参与多种病理过程。过氧化物酶体异常是齐-韦二氏脑肝肾综合征、新生儿肾上腺脑白质营养不良、婴儿型雷夫叙姆病以及其他几种遗传代谢疾病（假齐-韦二氏综合征、莱伯先天性黑蒙、脑腱黄瘤病、肢根型点状软骨发育不良）的核心特征。在过氧化物酶体功能普遍丧失的疾病（齐-韦二氏综合征、新生儿肾上腺脑白质营养不良、婴儿型雷夫叙姆病）中，发现极长链脂肪酸和病理性胆汁酸蓄积。患者的缩醛磷脂合成存在缺陷，尿中中链二羧酸和哌啶酸的排泄增加。这些由过氧化物酶体酶缺乏引起的异常为临床实验室检测提供了依据。对这些过氧化物酶体疾病的研究为过氧化物酶体的正常功能提供了有价值的信息。
