Baumgartner Matthias R, Saudubray Jean Marie
Metabolic Unit, University Children's Hospital, Basel, Switzerland.
Semin Neonatol. 2002 Feb;7(1):85-94. doi: 10.1053/siny.2001.0089.
Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions. The prototype of this group of diseases is the cerebro-hepato-renal syndrome of Zellweger (ZS), first described as a familial syndrome of multiple congenital defects in 1964. ZS is characterized by the presence of dysmorphias and polymalformative syndrome, severe neurologic abnormalities including neurosensory defects and hepato-intestinal dysfunction with failure to thrive and usually early death. Other peroxisomal disorders share some of these symptoms, but with varying degrees of organ involvement, severity of dysfunction and duration of survival. This paper provides an overview of the peroxisomal disorders including their clinical, biochemical and molecular characteristics with particular emphasis on the clinical presentation in neonates.
过氧化物酶体是亚细胞细胞器，在细胞代谢中催化许多不可或缺的功能。越来越多的遗传性疾病存在一种或多种过氧化物酶体功能受损的情况，这凸显了过氧化物酶体的重要性。这类疾病的典型代表是泽尔韦格脑肝肾综合征（ZS），1964年首次被描述为一种伴有多种先天性缺陷的家族性综合征。ZS的特征是存在畸形和多器官畸形综合征、严重的神经异常，包括神经感觉缺陷以及肝肠功能障碍，导致发育不良，通常早年死亡。其他过氧化物酶体疾病也有一些这些症状，但器官受累程度、功能障碍严重程度和存活时间各不相同。本文概述了过氧化物酶体疾病，包括其临床、生化和分子特征，特别强调了新生儿的临床表现。
