Fournier B, Smeitink J A, Dorland L, Berger R, Saudubray J M, Poll-The B T
University Children's Hospital, Wilhelmina Kinderziekenhuis, Department of Metabolic Diseases, Utrecht, The Netherlands.
J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362.
Until recently peroxisomal disorders were considered to be extremely rare and the diagnostic procedures available for postanatal and prenatal diagnosis were not widely known. At present, 17 human disorders are linked to peroxisomal dysfunction. The clinical, biochemical and morphological peroxisome heterogeneity described in the different diseases illustrate that only combined analysis of all the different approaches will lead to a correct diagnosis and a coherent pathophysiological model to guide ongoing research. With the study of human peroxisomal disease, advances have been gained as to the function of the peroxisome in normal and pathological conditions. Genetic analysis of peroxisome biogenesis and research on peroxisomal targeting signals are now in progress. Peroxisomal disorders are usually classified according to the degree of biochemical impairment. In this paper, a tentative classification of peroxisomal disorders will be proposed, based on the degree of biochemical abnormalities combined with new data obtained on whether or not defective peroxisome assembly is involved: (1) disorders with peroxisome assembly deficiencies; (2) disorders with single enzyme deficiencies. The clinical onset and the major symptoms of the various disorders, and the recently discovered findings are discussed.
直到最近，过氧化物酶体疾病仍被认为极为罕见，产后和产前诊断可用的诊断程序也并不广为人知。目前，有17种人类疾病与过氧化物酶体功能障碍有关。不同疾病中描述的临床、生化和形态学上的过氧化物酶体异质性表明，只有对所有不同方法进行综合分析，才能得出正确的诊断以及一个连贯的病理生理模型，以指导正在进行的研究。随着对人类过氧化物酶体疾病的研究，人们对过氧化物酶体在正常和病理条件下的功能有了进一步了解。目前正在进行过氧化物酶体生物发生的遗传分析以及过氧化物酶体靶向信号的研究。过氧化物酶体疾病通常根据生化损伤程度进行分类。本文将基于生化异常程度，并结合关于是否涉及有缺陷的过氧化物酶体组装的新数据，提出过氧化物酶体疾病的初步分类：（1）过氧化物酶体组装缺陷疾病；（2）单一酶缺陷疾病。文中还讨论了各种疾病的临床发病情况、主要症状以及最近发现的结果。
