Wanders R J, Schutgens R B, Barth P G
Academic Medical Center, University of Amsterdam, Department of Pediatrics, The Netherlands.
J Neuropathol Exp Neurol. 1995 Sep;54(5):726-39. doi: 10.1097/00005072-199509000-00016.
The peroxisomal disorders represent a group of inherited diseases in man in which there is an impairment in one or more peroxisomal functions. The disorders known up to now are usually subdivided into three groups depending upon whether there is a more generalized, multiple or single loss of peroxisomal functions. In this paper we will briefly describe the peroxisomal disorders known thus far with the biochemical abnormalities identified. Furthermore, we will describe a straightforward approach for the postnatal identification of patients suspected to suffer from a peroxisomal disorder which is of great importance since reliable prenatal diagnostic methods have become available for each of these disorders.
过氧化物酶体病是人类一组遗传性疾病，其中一种或多种过氧化物酶体功能受损。根据过氧化物酶体功能是更普遍、多种还是单一丧失，目前已知的疾病通常分为三组。在本文中，我们将简要描述迄今为止已知的过氧化物酶体病及其确定的生化异常。此外，我们将描述一种直接的方法，用于对疑似患有过氧化物酶体病的患者进行出生后鉴定，这非常重要，因为每种此类疾病都已有可靠的产前诊断方法。
