ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A proposed nosology of inborn errors of metabolism.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 1 of them a synthesis that pooled it.
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Who cites it
139 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- Bioengineering strategies for improving the immunogenicity of mRNA vaccines.Signal transduction and targeted therapy · 2026Review
- An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Article
- Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.Molecular and cellular pediatrics · 2026Article
- Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.Orphanet journal of rare diseases · 2026Article
- Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.Pharmaceutical medicine · 2026Review
- Shikimate pathway disruption in yeast induces metabolite self-assembly into toxic aggregates.The FEBS journal · 2026Article
- Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia.Molecular genetics and metabolism · 2026Review
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Cardiolipin preserves TNature metabolism · 2026Article
- Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).BMJ paediatrics open · 2026Article
- Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives.Journal of cardiovascular development and disease · 2026Review
- The complexome contextualizes proteomics data to fingerprint biological states and highlight perturbed functional modules in disease.NPJ systems biology and applications · 2026Article
- Reconstruction of human metabolic models with large language models.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies.Neurochemical research · 2026Review
- Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease.Molecular genetics and metabolism reports · 2025Article
- The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.EMBO molecular medicine · 2025Review
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
79 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
purposeWe propose a nosology for inborn errors of metabolism that builds on their recent redefinition.
methodsWe established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
resultsWe identified 1015 well-characterized inborn errors of metabolism described in the literature. In addition, there are 111 less well-characterized conditions that may be inborn errors but do not meet strict criteria for inclusion in the current nosology.
conclusionWe provide a master list of all currently recognized inborn errors of metabolism grouped according to their pathophysiological basis, with the hope of setting a standard against which new errors should be defined, as well as to promote awareness and foster collaboration in the area. With the rapid advances in the field of genetics in recent years, it is likely that this nosology will need to be updated in the near future, a process that will benefit from broader input and collaboration of experts in the field to improve future versions of the proposed classification.
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Registered trials
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