In a joint collaboration between the Journal of Inherited Metabolic Disorders and Neuropathology and Applied Neurobiology, we have drawn together a special, free‐to‐access, online collection of 12 articles from both journals, published in the past few years, which could interest the readers of both journals. We have chosen a number of intriguing case demonstrations, as well as showcasing neurologic, neuropathologic, and metabolic features of rare Mendelian IEMs.

Molecular technologies, for example, whole‐exome sequencing, have rapidly accelerated Mendelian disease discovery. In the last decade, several hundred inborn errors of metabolism have been discovered.1 Most of these disorders show significant central nervous system involvement. Understanding the pathomechanisms of these disorders also revealed new concepts underlying disease progression in metabolic disease.2, 3 These include lessons on the significance of autophagy in the progression of lysosomal disorders such as Danon disease or adult Pompe disease,4, 5 the role of heat shock proteins in the inflammatory aspects in X‐linked adrenoleukodystrophy,6 nitric oxide metabolism in argininosuccinic aciduria,7 or Bergman glia translocation in vanishing white matter disease.8

The discovery of novel disorders has also taught us the importance of energy metabolism for normal synaptic function and that not only proteins but also lipids play a major role in the dynamics of synaptic membranes contributing to the transport of synaptic vesicles.9

In this special online collection, we also selected a review on neurologic disease progression in cerebrotendinous xanthomatosis and on inborn errors of coenzyme A metabolism.10-12

We hope you find the collection of articles useful and informative.

在“遗传性代谢疾病与神经病理学杂志”和“应用神经生物学杂志”之间的联合合作中，我们汇集了过去几年发表的这两种期刊的 12 篇文章的特殊、免费访问的在线合集，这可能会引起两种期刊的读者。我们选择了许多有趣的案例演示，以及展示罕见孟德尔 IEM 的神经学、神经病理学和代谢特征。

分子技术，例如全外显子组测序，迅速加速了孟德尔疾病的发现。在过去的十年中，已经发现了数百个先天性的新陈代谢错误。1大多数这些疾病表现出显着的中枢神经系统受累。了解这些疾病的病理机制还揭示了代谢疾病中疾病进展的新概念。2,3这些包括对自噬的溶酶体病症如佳能疾病或成人蓬佩病，进展的意义教训4,5在X连锁的肾上腺脑白质营养不良炎症方面的热休克蛋白的作用，6中一氧化氮代谢精氨基琥珀酸尿症，7或伯格曼神经胶质易位在消失的白质疾病中。8

新疾病的发现也告诉我们能量代谢对正常突触功能的重要性，不仅蛋白质而且脂质在突触膜的动力学中起着重要作用，有助于突触小泡的运输。9

在这个特殊的在线集合中，我们还选择了一篇关于脑腱黄瘤病的神经系统疾病进展和辅酶 A 代谢先天性错误的综述。10-12

我们希望您发现这些文章集有用且信息丰富。