National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348.
Several initiatives at establishing a classification of inherited metabolic disorders have been published previously, some focusing on pathomechanisms, others on clinical manifestations, while yet another attempted a simplified approach of a comprehensive nosology. Some of these classifications suffered from shortcomings, such as lack of a mechanism for continuous update in light of a rapidly evolving field, or lack of widespread input from the metabolic community at large. Our classification-the International Classification of Inherited Metabolic Disorders, or International Classification of Inborn Metabolic Disorders (ICIMD)-includes 1450 disorders, and differs from prior approaches in that it benefited from input by a large number of experts in the field, and was endorsed by major metabolic societies around the globe. Several criteria such as pathway involvement and pathomechanisms were considered. The main purpose of the hierarchical, group-based approach of the ICIMD is an improved understanding of the interconnections between many individual conditions that may share functional, clinical, and diagnostic features. The ICIMD aims to include any primary genetic condition in which alteration of a biochemical pathway is intrinsic to specific biochemical, clinical, and/or pathophysiological features. As new disorders are discovered, we will seek the opinion of experts in the advisory board prior to inclusion in the appropriate group of the ICIMD, thus guaranteeing the continuing relevance of this classification via regular curation and expert advice.
先前已经发布了几项建立遗传性代谢紊乱分类的倡议，其中一些侧重于发病机制，另一些侧重于临床表现，而另一些则尝试采用综合分类学的简化方法。这些分类中的一些存在缺点，例如缺乏根据快速发展的领域不断更新的机制，或者缺乏来自广大代谢界的广泛投入。我们的分类——遗传性代谢紊乱国际分类（或先天性代谢紊乱国际分类）（ICIMD）——包括 1450 种疾病，与之前的方法不同，它受益于该领域众多专家的投入，并得到了全球各大代谢学会的认可。考虑了几个标准，例如途径参与和发病机制。ICIMD 的分层、基于组的方法的主要目的是更好地理解许多可能具有功能、临床和诊断特征的个体病症之间的相互联系。ICIMD 旨在包括任何原发性遗传疾病，其中生化途径的改变是特定生化、临床和/或病理生理特征的内在原因。随着新疾病的发现，我们将在将其纳入 ICIMD 的适当组别之前，征求顾问委员会专家的意见，从而通过定期策展和专家建议来保证该分类的持续相关性。
