Wanders Ronald J A, Klouwer Femke C C, Ferdinandusse Sacha, Waterham Hans R, Poll-Thé Bwee Tien
Laboratory Genetic Metabolic Diseases, Departments of Paediatrics and Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
Methods Mol Biol. 2017;1595:329-342. doi: 10.1007/978-1-4939-6937-1_30.
The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Here, we describe these new developments and provide guidelines for the clinical and laboratory diagnosis of peroxisomal patients.
过氧化物酶体病（PDs）是人类一组由过氧化物酶体生物发生受损或过氧化物酶体的一种代谢功能受损引起的遗传性疾病。由于基因测序方法的革命性技术发展及其在患者诊断中的更多应用，在过去几年中，一般遗传性疾病领域，特别是过氧化物酶体病领域发生了巨大变化。事实上，最近已经发现了几种新的过氧化物酶体病，此外，人们还认识到受PD影响的患者的表型谱不断扩大，这使得过氧化物酶体病患者的临床识别越来越困难。在此，我们描述这些新进展，并为过氧化物酶体病患者的临床和实验室诊断提供指导。
