Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (657 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (metabolism, inborn errors) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Disease, Metabolic; Metabolic Disease; Diseases, Metabolic; Thesaurismosis; Thesaurismoses.
Where it fits in the MeSH classification
- Broader topics
- Nutritional and Metabolic Diseases
- Narrower topics
- Acid-Base Imbalance; Bone Diseases, Metabolic; Brain Diseases, Metabolic; Calcium Metabolism Disorders; DNA Repair-Deficiency Disorders; Glucose Metabolism Disorders; Hyperlactatemia; Iron Metabolism Disorders; Lipid Metabolism Disorders; Malabsorption Syndromes; Metabolic Syndrome; Metabolism, Inborn Errors; Mitochondrial Diseases; Phosphorus Metabolism Disorders
Related concepts
- Metabolism
- Inborn Errors
Research landscape
PubMed indexes 1,304,331 records tagged with the MeSH heading “Metabolic Diseases” (counts retrieved 2026-10-31). 284,037 of them (21.8%) were published from 2020 onward, and the busiest period so far is through 1999 with 406,744 records.
Reviews account for 202,942 records (15.6%) and meta-analyses for 16,414. Randomized controlled trials number 44,794 (3.4%) as a share of all records on the topic.
Show the data
| Period | Records |
|---|---|
| through 1999 | 406,744 |
| 2000-2009 | 245,831 |
| 2010-2019 | 367,719 |
| 2020 onward | 284,037 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 202,942 | 15.6% |
| Meta-analyses | 16,414 | 1.3% |
| Randomized controlled trials | 44,794 | 3.4% |
Method: PubMed query "Metabolic Diseases"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-31.
Reading the evidence in metabolism and endocrine disease
Studies of diabetes, obesity and hormone disorders often follow blood tests such as glucose, HbA1c or hormone levels, which are stand-ins for outcomes that matter more, such as complications. Lifestyle and diet research is largely observational, and weight and diabetes trials can differ in how long people were followed. Nothing on this page is advice about medicines, insulin or diet; talk to a qualified clinician about your own situation. Check whether the outcome was a lab value or a clinical event, and the type and duration of the condition studied.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Beyond treatment: reframing child wasting prevention and recovery in humanitarian settings | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42924635 · DOI · PMC13693289 |
| Associations of cumulative exposure and dynamic trajectories of the combined atherogenic-frailty index with incident cardiometabolic multimorbidity: a prospective cohort study | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42895260 · DOI · PMC13679350 |
| Case Report: Hyperinsulinemic hypoglycemia and arterial aneurysms in KAT6B-related disorder: case observation and literature perspective | 2026 | Research article Design not recorded in structured metadata | 0 | cc by PMID 42923075 · DOI · PMC13686896 |
Beyond treatment: reframing child wasting prevention and recovery in humanitarian settings [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Despite substantial advances in the treatment of child wasting over the past two decades, progress in reducing wasting incidence has remained limited, particularly in humanitarian settings.
- Closing excerpt
- As humanitarian needs increase while development financing declines, future progress against wasting will depend not only on improving treatment, but also on rethinking how prevention, diagnosis, recovery, and system integration are addressed across the continuum of care.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (151 words)
Despite substantial advances in the treatment of child wasting over the past two decades, progress in reducing wasting incidence has remained limited, particularly in humanitarian settings. This commentary argues that global policy must evolve from a predominantly treatment-oriented paradigm toward a more integrated continuum encompassing prevention, early identification, treatment, recovery, and post-discharge support. Drawing on a programme of recent research conducted in Somalia, we highlight four emerging priorities for global policy: strengthening prevention through integrated cash-plus and multisectoral approaches; improving identification of high-risk children by addressing limitations of current anthropometric indicators; recognising relapse as a major programmatic outcome requiring continued support after discharge; and integrating nutrition with broader health, social protection, and humanitarian systems. As humanitarian needs increase while development financing declines, future progress against wasting will depend not only on improving treatment, but also on rethinking how prevention, diagnosis, recovery, and system integration are addressed across the continuum of care.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42924635 · DOI · PMC13693289
Associations of cumulative exposure and dynamic trajectories of the combined atherogenic-frailty index with incident cardiometabolic multimorbidity: a prospective cohort study [2]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundCardiometabolic multimorbidity (CMM) poses a growing global health burden, yet effective tools for early risk stratification remain limited.
- Closing excerpt
- Dynamic monitoring of this composite biomarker could facilitate the early identification of high-risk individuals, thereby informing targeted prevention strategies for middle-aged and older adults in China.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (280 words)
BackgroundCardiometabolic multimorbidity (CMM) poses a growing global health burden, yet effective tools for early risk stratification remain limited. The combined impact of atherogenic dyslipidaemia and physiological frailty, captured by the atherogenic index of plasma-frailty index (AIP-FI), on CMM development is poorly understood. This study aimed to investigate the associations of cumulative exposure and longitudinal trajectories of AIP-FI with incident CMM.MethodsThis prospective cohort study included 4,157 participants aged ≥45 years without baseline CMM from CHARLS. The AIP-FI was constructed as the product of AIP and a 37-deficit frailty index. Cumulative AIP-FI was calculated from repeated measurements. Longitudinal trajectories were identified using K-means clustering. Associations with incident CMM were evaluated by multivariable Cox models, RCS, K-M curves, ROC/NRI/IDI, mediation, interaction, subgroup, and sensitivity analyses.ResultsOver a mean 8.5-year follow-up, 612 incident CMM cases occurred. Both higher baseline and cumulative AIP-FI were significantly associated with increased CMM risk, with cumulative exposure showing a stronger effect (fully-adjusted HR per SD increment: 1.46; 95% CI = 1.38-1.54). Participants in the highest quartile of cumulative AIP-FI had a near 4-fold higher CMM risk compared to the lowest (HR = 3.95; 95% CI = 2.95-5.29). Clustering analyses revealed that groups with high-stable AIP-FI exhibited the highest CMM risks. Cumulative AIP-FI demonstrated superior predictive performance for CMM (AUC = 71.17%) and significantly improved risk reclassification over traditional markers (NRI = 0.157). Mediation analyses suggested bidirectional synergistic effects between AIP and FI.ConclusionsIn this national cohort, both the cumulative burden and adverse longitudinal trajectories of AIP-FI were independently associated with an elevated risk of CMM. Dynamic monitoring of this composite biomarker could facilitate the early identification of high-risk individuals, thereby informing targeted prevention strategies for middle-aged and older adults in China.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42895260 · DOI · PMC13679350
Case Report: Hyperinsulinemic hypoglycemia and arterial aneurysms in KAT6B-related disorder: case observation and literature perspective [3]
Abstract reading summary — source excerpts
- Opening excerpt
- IntroductionKAT6B-related disorders (KAT6B-RD) are rare autosomal dominant chromatinopathies characterized by variable multisystem involvement and marked phenotypic heterogeneity.
- Closing excerpt
- These findings nonetheless support careful endocrine and cardiovascular surveillance and follow-up in patients with KAT6B-RD.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (226 words)
IntroductionKAT6B-related disorders (KAT6B-RD) are rare autosomal dominant chromatinopathies characterized by variable multisystem involvement and marked phenotypic heterogeneity.Case presentationWe describe a preterm male infant with intrauterine growth restriction who developed recurrent hypoglycemia toward the end of the first week of life during parenteral nutrition weaning, requiring a glucose infusion rate of up to 12 mg/kg/min. Biochemical findings were consistent with hyperinsulinemic hypoglycemia, and glycemic control was rapidly achieved with diazoxide (initiated at 5 mg/kg/day and increased to 6.9 mg/kg/day). After treatment discontinuation at 4 months of age, he exhibited recurrent hypoglycemia again, requiring the resumption of diazoxide. The patient also exhibited complete scrotal agenesis with complex genital anomalies, agenesis of the corpus callosum, generalized hypotonia, severe feeding difficulties requiring gastrostomy, primary hypothyroidism, and aneurysmal dilation of the ascending aorta and proximal right coronary artery. Clinical exome sequencing identified a de novo heterozygous pathogenic KAT6B variant (c.3995del; p.Pro1332Leufs*2) in exon 17. Diazoxide was successfully discontinued at 12 months of age under continuous glucose monitoring.ConclusionThis case highlights congenital hyperinsulinism and arterial aneurysms as a clinical association observed in a patient with KAT6B-RD. Rather than representing definitive novel features of the syndrome, these manifestations should be interpreted with caution as hypothesis-generating findings potentially linked to KAT6B-mediated epigenetic dysregulation, while accounting for potential perinatal confounding factors. These findings nonetheless support careful endocrine and cardiovascular surveillance and follow-up in patients with KAT6B-RD.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42923075 · DOI · PMC13686896
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article GLP-1 agonists and changes in body mass and composition in adults with overweight or obesity with or without type 2 diabetes mellitus: a systematic review and meta-analysis [4]
- Research article Oral health and diabetes: a systematic review and meta-analysis [5]
- Research article Rethinking hypercortisolism screening in obesity and diabetes: A systematic review and meta-analysis [6]
- Research article Mediterranean diet for the primary prevention of cardiometabolic diseases: evidence from a systematic review and meta-analysis featured in the Italian National Guidelines "La Dieta Mediterranea" [7]
- Research article Interventions to reduce diabetes-related distress among adults with type 1 or type 2 diabetes: a systematic review and meta-analysis of randomised controlled trials [8]
- Research article Global prevalence of metabolic syndrome in adults with obstructive sleep apnea: a systematic review and meta-analysis [9]
Full-text reviews on EvidenceLib
Open-access review articles about this topic, reproduced in full with authors, licence and references.
New Insights and Potential Therapeutic Interventions in Metabolic Diseases
Vicente Javier Clemente-Suárez, Alexandra Martín-Rodríguez, Laura Redondo-Flórez et al. · International Journal of Molecular Sciences 2023 · CC BY 4.0
The effects of combined exercise training on glucose metabolism and inflammatory markers in sedentary adults: a systematic review and meta-analysis
Fernanda M. Silva, Pedro Duarte-Mendes, Ana M. Teixeira et al. · Scientific Reports 2024 · CC BY 4.0
Surgery is associated with better long-term outcomes than pharmacological treatment for obesity: a systematic review and meta-analysis
Leonardo Zumerkorn Pipek, Walter Augusto Fabio Moraes, Rodrigo Massato Nobetani et al. · Scientific Reports 2024 · CC BY 4.0
Role of Glucocorticoids in Metabolic Dysfunction-Associated Steatotic Liver Disease
Stergios A. Polyzos, Giovanni Targher · Current Obesity Reports 2024 · CC BY 4.0
The Role of Adipokines in Health and Disease
Vicente Javier Clemente-Suárez, Laura Redondo-Flórez, Ana Isabel Beltrán-Velasco et al. · Biomedicines 2023 · CC BY 4.0
References
- Mohamoud SA, Walton S, Grounds S, Garretson S, Khattak Q, Tripaldi M, et al.. Beyond treatment: reframing child wasting prevention and recovery in humanitarian settings. . 2026. PMID 42924635 · DOI · PMC13693289
- Wu H, Song Z, Ye T, Yang C. Associations of cumulative exposure and dynamic trajectories of the combined atherogenic-frailty index with incident cardiometabolic multimorbidity: a prospective cohort study. . 2026. PMID 42895260 · DOI · PMC13679350
- Improda N, Rosanio FM, Ballarin G, Acquaviva F, di Nardo G, Lepore L, et al.. Case Report: Hyperinsulinemic hypoglycemia and arterial aneurysms in KAT6B-related disorder: case observation and literature perspective. . 2026. PMID 42923075 · DOI · PMC13686896
- Sawicka-Gutaj N, Gruszczyński D, Nijakowski K, Derwich-Rudowicz A, Krenz M, Kumar A, et al.. GLP-1 agonists and changes in body mass and composition in adults with overweight or obesity with or without type 2 diabetes mellitus: a systematic review and meta-analysis. Int J Obes (Lond). 2026. PMID 42034831 · DOI · PMC13461353
- Botelho J, Singh S, Varenne B, Rendell N, Harada Y, Proença L, et al.. Oral health and diabetes: a systematic review and meta-analysis. Lancet Public Health. 2026. PMID 42480567 · DOI
- Ferrari D, Bonaventura I, Tenuta M, Pofi R, Al Awadi F, Jamal HF, et al.. Rethinking hypercortisolism screening in obesity and diabetes: A systematic review and meta-analysis. Metabolism. 2026. PMID 42289244 · DOI
- Muscogiuri G, Maiorino MI, Paolini B, Aversano F, Buscemi C, Cappiello I, et al.. Mediterranean diet for the primary prevention of cardiometabolic diseases: evidence from a systematic review and meta-analysis featured in the Italian National Guidelines "La Dieta Mediterranea". Nutrition. 2026. PMID 42048757 · DOI
- Schipper SBJ, Karagiannis T, Zaccardi F, Remmelzwaal S, Blom M, Dagan N, et al.. Interventions to reduce diabetes-related distress among adults with type 1 or type 2 diabetes: a systematic review and meta-analysis of randomised controlled trials. Diabetologia. 2026. PMID 42726276 · DOI · PMC13714115
- Pant S, Kyrou I, Dallaway A, Kite C, Lagojda L, Asad A, et al.. Global prevalence of metabolic syndrome in adults with obstructive sleep apnea: a systematic review and meta-analysis. Sleep. 2026. PMID 42171637 · DOI · PMC13553307
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-11-04; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-11-04.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.