Evidence map›Paper›PMID 33340416›Full record

ArticleJournal of inherited metabolic disease2021

An international classification of inherited metabolic disorders (ICIMD).

Carlos R Ferreira, Shamima Rahman, Markus Keller, Johannes Zschocke, ICIMD Advisory Group

Registry-linked trialAbstract read
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In one paragraph

Article in Journal of inherited metabolic disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07614139 (Continuous Glucose Monitoring Alerts, Accuracy, and Patient Outcomes in Adults With Inherited Metabolic Disorders Prone to Hypoglycemia), which is not on this map. Cited by 191 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
191citing papers in PubMed, 5 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07614139 nacompletednot on this mapstarted 2025, after this paper: background citation

Continuous Glucose Monitoring Alerts, Accuracy, and Patient Outcomes in Adults With Inherited Metabolic Disorders Prone to Hypoglycemia

TypeinterventionalSponsorUniversity Hospital PadovaRan2025 to 2025Enrolled11ConditionsGlycogen Storage Disease, Congenital Hyperinsulinism (CHI), HypoglycemiaArmsContinuous glucose monitor with threshold and predictive alerts (Dexcom G7), Continuous glucose monitor with threshold-only alerts (Dexcom ONE+)
3 · Its place in the literature

Who cites it

191 citing papers in PubMed, 5 syntheses or guidelines pooled it.

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  7. Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review.Medical science monitor : international medical journal of experimental and clinical research · 2026
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131 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-2697-1046
Shamima RahmanMitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0003-2088-730X
Markus KellerInstitute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.ORCID 0000-0002-8654-9920
Johannes ZschockeInstitute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.ORCID 0000-0002-0046-8274
ICIMD Advisory Group

Funding

Intramural NIH HHS Z99 HG999999Medical Research Council MC_UP_1002/1MRF_ MRF-155-0002-RG-ZEVIA
6 · The paper itself

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 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.

Indexed as

International Classification of DiseasesHumansMetabolism, Inborn ErrorsclassificationICIMDinherited metabolic disordersontology

Identifiers

PMID33340416
PMCPMC9021760

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.