biostudies-literatureFerreira CRMRFIntramural NIH HHSMedical Research FoundationMedical Research Council164-177https://www.ebi.ac.uk/biostudies/studies/S-EPMC9021760biostudies-literatureUnknown44(1)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 metabJournal of inherited metabolic diseaseAn international classification of inherited metabolic disorders (ICIMD).PMC9021760MRF-155-0002-RG-ZEVIAMRF_MRF-155-0002-RG-ZEVIAMC_UP_1002/1Z99 HG999999Kornblum CKolker SVockley JMcFarland RCarroll CJimenez-Mallebrera CNaess KProkisch HJaeken JKaraa AFukao TWanders RAbdenur JGoldstein AInwood APeters VIbarra IThorburn DSalomons GSSmeitink JSaada ALemes AMorava EChinnery PFChristodoulou JSchiff MWiley VFerreira CRWebster DArtuch RDarin NKeller MVan Hove JHoffmann GDuley JAWredenberg ATangeraas TRahman SICIMD Advisory GroupZeviani MServidei SLewis BVan Karnebeek CKlopstock TPerez de Ferran CParikh SDiodato DSuomalainen AThiele ICornejo VWedell AMochel FOlry AVisser GLamperti CGiugliani RBallabio AMancuso MAli HGarcia-Cazorla ABaumgartner MLarsson NGBarshop BSaudubray JMZschocke JHorvath ROkuyama TSchara-Schmidt UVan der Ploeg ATCarelli VBlau NDionisi-Vici CScarpa MMontoya JPaquis-Flucklinger VTaylor RWDerks TBertini ESPatterson MKozich VfalseAn international classification of inherited metabolic disorders (ICIMD).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 metab2021-01-01T00:00:00Z2021 Jan2025-04-19T21:48:57.776Z2025-04-19T21:48:57.776ZS-EPMC90217603334041610.1002/jimd.12348