Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands; Department of Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Mol Cell Probes. 2018 Aug;40:60-69. doi: 10.1016/j.mcp.2018.02.001. Epub 2018 Feb 10.
Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans is exemplified by the existence of a group of peroxisomal disorders, caused by mutations in > 30 different genes which code for proteins with a role in either peroxisome biogenesis or one of the metabolic pathways in peroxisomes. Technological advances in laboratory methods at the metabolite-, enzyme-, and molecular level have not only allowed the identification of new peroxisomal disorders but also new phenotypes associated with already identified genetic defects thus extending the clinical spectrum. Unfortunately, progress in the field of pathogenesis and treatment has lagged behind although there are certainly new and hopeful developments with respect to X-linked adrenoleukodystrophy and hyperoxaluria type 1.
过氧化物酶体催化许多重要的代谢功能，其中脂肪酸的 α-和 β-氧化、醚磷脂生物合成、乙醛酸解毒和胆汁酸合成是最重要的。过氧化物酶体在人类中的关键作用体现在一组过氧化物酶体疾病的存在上，这些疾病是由编码在过氧化物酶体中发挥作用的蛋白质的 > 30 种不同基因突变引起的，这些蛋白质要么参与过氧化物酶体的生物发生，要么参与过氧化物酶体中的一种代谢途径。在代谢物、酶和分子水平上的实验室方法的技术进步不仅允许鉴定新的过氧化物酶体疾病，而且还与已经确定的遗传缺陷相关的新表型，从而扩展了临床谱。不幸的是，尽管在 X 连锁肾上腺脑白质营养不良和 1 型高草酸尿症方面有新的、有希望的进展，但该领域的发病机制和治疗方面的进展一直滞后。
