An International Classification of Inherited Metabolic Disorders (ICIMD)

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An International Classification of Inherited Metabolic Disorders (ICIMD)

Ferreira, CR; Rahman, S; Keller, M; Zschocke, J; ICIMD advisory group; (2021) An International Classification of Inherited Metabolic Disorders (ICIMD). Journal of Inherited Metabolic Disease , 44 (1) pp. 164-177. 10.1002/jimd.12348. Green open access

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Abstract

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 ICIMD – includes 1,450 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.

Type:	Article
Title:	An International Classification of Inherited Metabolic Disorders (ICIMD)
Location:	United States
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1002/jimd.12348
Publisher version:	https://doi.org/10.1002/jimd.12348
Language:	English
Additional information:	This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI:	https://discovery.ucl.ac.uk/id/eprint/10118436