metabolic diseases


Summary: 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)

Top Publications

  1. He A, Shi G. Mast cell chymase and tryptase as targets for cardiovascular and metabolic diseases. Curr Pharm Des. 2013;19:1114-25 pubmed
    Mast cells are critical effectors in inflammatory diseases, including cardiovascular and metabolic diseases and their associated complications...
  2. Spite M, Claria J, Serhan C. Resolvins, specialized proresolving lipid mediators, and their potential roles in metabolic diseases. Cell Metab. 2014;19:21-36 pubmed publisher
    ..response is host-protective and normally self-limited, chronic low-grade inflammation associated with metabolic diseases is sustained and detrimental...
  3. McGettrick A, O Neill L. NLRP3 and IL-1? in macrophages as critical regulators of metabolic diseases. Diabetes Obes Metab. 2013;15 Suppl 3:19-25 pubmed publisher
    ..This review concentrates on the activation of NLRP3 during the development of metabolic disorders and the effect this activation has on the inflammatory state as well as the metabolic state of the cell. ..
  4. Thauvin Robinet C, Auclair M, Duplomb L, Caron Debarle M, Avila M, St Onge J, et al. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet. 2013;93:141-9 pubmed publisher
  5. Chudasama K, Winnay J, Johansson S, Claudi T, König R, Haldorsen I, et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013;93:150-7 pubmed publisher
    ..Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling. ..
  6. Bluher M. Adipose tissue dysfunction contributes to obesity related metabolic diseases. Best Pract Res Clin Endocrinol Metab. 2013;27:163-77 pubmed publisher
    ..A better understanding of mechanisms causing or maintaining AT dysfunction may provide new therapeutic strategies in the treatment of obesity-induced metabolic diseases.
  7. Ruchat S, Houde A, Voisin G, St Pierre J, Perron P, Baillargeon J, et al. Gestational diabetes mellitus epigenetically affects genes predominantly involved in metabolic diseases. Epigenetics. 2013;8:935-43 pubmed publisher
    ..7 ± 3.2% and 3.4 ± 1.9% for placenta and cord blood, respectively. These genes were likely involved in the metabolic diseases pathway (up to 115 genes (11%), p-values for pathways = 1.9 × 10(-13)<p<4...
  8. Dyment D, Smith A, Alcantara D, Schwartzentruber J, Basel Vanagaite L, Curry C, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013;93:158-66 pubmed publisher
    ..Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway...
  9. Wen H, Ting J, O Neill L. A role for the NLRP3 inflammasome in metabolic diseases--did Warburg miss inflammation?. Nat Immunol. 2012;13:352-7 pubmed publisher
    ..Here we explore how the Warburg effect might be linked to inflammation and inflammasome activation. ..

More Information


  1. De Hert M, Detraux J, van Winkel R, Yu W, Correll C. Metabolic and cardiovascular adverse effects associated with antipsychotic drugs. Nat Rev Endocrinol. 2011;8:114-26 pubmed publisher
  2. Behl M, Rao D, Aagaard K, Davidson T, Levin E, Slotkin T, et al. Evaluation of the association between maternal smoking, childhood obesity, and metabolic disorders: a national toxicology program workshop review. Environ Health Perspect. 2013;121:170-80 pubmed publisher
  3. Goto T, Kim Y, Takahashi N, Kawada T. Natural compounds regulate energy metabolism by the modulating the activity of lipid-sensing nuclear receptors. Mol Nutr Food Res. 2013;57:20-33 pubmed publisher
  4. Houtkooper R, Auwerx J. Exploring the therapeutic space around NAD+. J Cell Biol. 2012;199:205-9 pubmed publisher
  5. Kumar M, Nagpal R, Kumar R, Hemalatha R, Verma V, Kumar A, et al. Cholesterol-lowering probiotics as potential biotherapeutics for metabolic diseases. Exp Diabetes Res. 2012;2012:902917 pubmed publisher
    ..The present paper reviews the mechanisms of action of anti-cholesterolemic potential of probiotic microorganisms and probiotic food products, with the aim of lowering the risks of cardiovascular and coronary heart diseases. ..
  6. Laplante M, Sabatini D. mTOR signaling in growth control and disease. Cell. 2012;149:274-93 pubmed publisher
    ..Here, we review recent advances in our understanding of the mTOR pathway and its role in health, disease, and aging. We further discuss pharmacological approaches to treat human pathologies linked to mTOR deregulation. ..
  7. Rottiers V, Najafi Shoushtari S, Kristo F, Gurumurthy S, Zhong L, Li Y, et al. MicroRNAs in metabolism and metabolic diseases. Cold Spring Harb Symp Quant Biol. 2011;76:225-33 pubmed publisher
  8. Canto C, Auwerx J. Targeting sirtuin 1 to improve metabolism: all you need is NAD(+)?. Pharmacol Rev. 2012;64:166-87 pubmed publisher
    ..We then analyze the pros and cons of the current strategies used to activate SIRT1 and explore the emerging evidence indicating that modulation of NAD(+) levels could provide an effective way to achieve such goals. ..
  9. Osborn O, Olefsky J. The cellular and signaling networks linking the immune system and metabolism in disease. Nat Med. 2012;18:363-74 pubmed publisher
    ..linking the immune and metabolic systems together have contributed to understanding of the pathogenesis of metabolic diseases and may also inform new therapeutic strategies based on immunomodulation...
  10. Muraki E, Hayashi Y, Chiba H, Tsunoda N, Kasono K. Dose-dependent effects, safety and tolerability of fenugreek in diet-induced metabolic disorders in rats. Lipids Health Dis. 2011;10:240 pubmed publisher
    ..We previously reported that fenugreek (Trigonella foenum-graecum L.) improved diet-induced metabolic disorders in rats. The purpose of the present study was to examine the dose-dependent effects, safety and tolerability of fenugreek...
  11. Hostens M, Ehrlich J, Van Ranst B, Opsomer G. On-farm evaluation of the effect of metabolic diseases on the shape of the lactation curve in dairy cows through the MilkBot lactation model. J Dairy Sci. 2012;95:2988-3007 pubmed publisher
    The effects of metabolic diseases (MD) occurring during the transition period on milk production of dairy cows have been evaluated in many different ways, often with conflicting conclusions...
  12. Nicholson J, Holmes E, Kinross J, Burcelin R, Gibson G, Jia W, et al. Host-gut microbiota metabolic interactions. Science. 2012;336:1262-7 pubmed publisher
    ..A deeper understanding of these axes is a prerequisite for optimizing therapeutic strategies to manipulate the gut microbiota to combat disease and improve health. ..
  13. Dapena M, Jimenez B, Noguera Julian A, Soler Palacin P, Fortuny C, Lahoz R, et al. Metabolic disorders in vertically HIV-infected children: future adults at risk for cardiovascular disease. J Pediatr Endocrinol Metab. 2012;25:529-35 pubmed
    ..We need to encourage the development of global strategies and the creation of consensus guidelines that can decrease the cardiovascular risk in this population. ..
  14. Musoke P, Fergusson P. Severe malnutrition and metabolic complications of HIV-infected children in the antiretroviral era: clinical care and management in resource-limited settings. Am J Clin Nutr. 2011;94:1716S-1720S pubmed publisher
  15. Piperi C, Adamopoulos C, Dalagiorgou G, Diamanti Kandarakis E, Papavassiliou A. Crosstalk between advanced glycation and endoplasmic reticulum stress: emerging therapeutic targeting for metabolic diseases. J Clin Endocrinol Metab. 2012;97:2231-42 pubmed publisher
    ..under conditions of increased oxidative stress, hyperglycemia, and hypoxia contributing to a variety of metabolic diseases such as diabetes mellitus, obesity, inflammation, polycystic ovarian syndrome, ischemic cardiovascular ..
  16. Hatori M, Vollmers C, Zarrinpar A, DiTacchio L, Bushong E, Gill S, et al. Time-restricted feeding without reducing caloric intake prevents metabolic diseases in mice fed a high-fat diet. Cell Metab. 2012;15:848-60 pubmed publisher
    ..To test whether obesity and metabolic diseases result from HFD or disruption of metabolic cycles, we subjected mice to either ad lib or time-restricted ..
  17. Tappy L, Mittendorfer B. Fructose toxicity: is the science ready for public health actions?. Curr Opin Clin Nutr Metab Care. 2012;15:357-61 pubmed publisher
    ..Public health is almost certainly to benefit more from policies that are aimed at promoting what is known to be good than from policies that are prohibiting what is not (yet) known to be bad. ..
  18. Garcia Rios A, Perez Martinez P, Delgado Lista J, Lopez Miranda J, Perez Jimenez F. Nutrigenetics of the lipoprotein metabolism. Mol Nutr Food Res. 2012;56:171-83 pubmed publisher
    ..This review discusses some of the evidence in which candidate SNPs can affect the key players of lipid metabolism and how their phenotypic manifestations can be modified by dietary intake. ..
  19. Muraki E, Chiba H, Tsunoda N, Kasono K. Fenugreek improves diet-induced metabolic disorders in rats. Horm Metab Res. 2011;43:950-5 pubmed publisher
    ..The purpose of this study was to examine the preventive efficiency of dietary fenugreek on diet-induced metabolic diseases in rats...
  20. Rippe J, Angelopoulos T. Sucrose, high-fructose corn syrup, and fructose, their metabolism and potential health effects: what do we really know?. Adv Nutr. 2013;4:236-45 pubmed publisher
    ..The purpose of this review is to summarize current knowledge about the metabolism, endocrine responses, and potential health effects of sucrose, HFCS, and fructose. ..
  21. Goto T, Kim Y, Funakoshi K, Teraminami A, Uemura T, Hirai S, et al. Farnesol, an isoprenoid, improves metabolic abnormalities in mice via both PPAR?-dependent and -independent pathways. Am J Physiol Endocrinol Metab. 2011;301:E1022-32 pubmed publisher
    ..In this study, we showed that farnesol, a naturally occurring ligand of PPARs, could ameliorate metabolic diseases. Obese KK-Ay mice fed a high-fat diet (HFD) containing 0...
  22. Lomberk G, Mathison A, Grzenda A, Seo S, DeMars C, Rizvi S, et al. Sequence-specific recruitment of heterochromatin protein 1 via interaction with Krüppel-like factor 11, a human transcription factor involved in tumor suppression and metabolic diseases. J Biol Chem. 2012;287:13026-39 pubmed publisher
  23. Xu J, Shi G. Emerging role of mast cells and macrophages in cardiovascular and metabolic diseases. Endocr Rev. 2012;33:71-108 pubmed publisher
  24. Pollock N, Bundy V, Kanto W, Davis C, BERNARD P, Zhu H, et al. Greater fructose consumption is associated with cardiometabolic risk markers and visceral adiposity in adolescents. J Nutr. 2012;142:251-7 pubmed publisher
    ..05). In adolescents, higher fructose consumption is associated with multiple markers of cardiometabolic risk, but it appears that these relationships are mediated by visceral obesity. ..
  25. Fauser B, Tarlatzis B, Rebar R, Legro R, Balen A, Lobo R, et al. Consensus on women's health aspects of polycystic ovary syndrome (PCOS): the Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group. Fertil Steril. 2012;97:28-38.e25 pubmed publisher
    ..Additional, comprehensive background information is provided separately in an extended online publication. ..
  26. Ribes Koninckx C, Ibars E, Calzado Agrasot M, Bonora Centelles A, Miquel B, Vila Carbó J, et al. Clinical outcome of hepatocyte transplantation in four pediatric patients with inherited metabolic diseases. Cell Transplant. 2012;21:2267-82 pubmed publisher
    ..Four pediatric patients with liver metabolic diseases [ornithine transcarbamylase (OTC) deficiency, Crigler-Najjar (CNI) syndrome, glycogen storage disease Ia (..
  27. Rodrigues J, Henriques B, Lucas T, Gomes C. Cofactors and metabolites as protein folding helpers in metabolic diseases. Curr Top Med Chem. 2012;12:2546-59 pubmed
    ..crosstalk between clinicians and researchers has led to the identification of an increasing number of inborn metabolic diseases. In these disorders, missense mutations are the most frequent type of genetic defects, frequently resulting ..
  28. Steculorum S, Vogt M, Bruning J. Perinatal programming of metabolic diseases: role of insulin in the development of hypothalamic neurocircuits. Endocrinol Metab Clin North Am. 2013;42:149-64 pubmed publisher
    ..This review summarizes the main findings regarding the key regulatory roles of perinatal insulin and glucose levels on hypothalamic development and on long-term programming of metabolic diseases reported in different rodent models.
  29. Ibrahim M, Fjære E, Lock E, Frøyland L, Jessen N, Lund S, et al. Metabolic impacts of high dietary exposure to persistent organic pollutants in mice. Toxicol Lett. 2012;215:8-15 pubmed publisher
    Persistent organic pollutants (POPs) have been linked to metabolic diseases. Yet, the effects of high exposure to dietary POPs remain unclear...
  30. Lamari F, Mochel F, Sedel F, Saudubray J. Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis. 2013;36:411-25 pubmed publisher
    ..These synthesis defects of complex lipid molecules stand at the frontier between classical inborn errors of metabolism and other genetic diseases involving the metabolism of structural proteins. ..
  31. Gharib S, Khalyfa A, Abdelkarim A, Bhushan B, Gozal D. Integrative miRNA-mRNA profiling of adipose tissue unravels transcriptional circuits induced by sleep fragmentation. PLoS ONE. 2012;7:e37669 pubmed publisher
  32. Zullo A, Simone E, Grimaldi M, Gagliardi M, Zullo L, Matarazzo M, et al. Effect of nutrient deprivation on the expression and the epigenetic signature of sirtuin genes. Nutr Metab Cardiovasc Dis. 2018;28:418-424 pubmed publisher
    ..results in vivo to achieve a comprehensive understanding of the epigenetic control of sirtuin expression following nutrient deprivations might open up novel therapeutic possibilities to cure metabolic diseases and promote human health.
  33. Rosales Velderrain A, Goldberg R, Ames G, Stone R, Lynch S, Bowers S. Hypometabolizers: characteristics of obese patients with abnormally low resting energy expenditure. Am Surg. 2014;80:290-4 pubmed
    ..We could not identify any distinguishing phenotypic characteristics of hypometabolizers, suggesting an influence unrelated to body composition. ..
  34. Zoccali C, Vanholder R, Massy Z, Ortiz A, Sarafidis P, Dekker F, et al. The systemic nature of CKD. Nat Rev Nephrol. 2017;13:344-358 pubmed publisher
  35. Woods S, May A, Liu M, Tso P, Begg D. Using the cerebrospinal fluid to understand ingestive behavior. Physiol Behav. 2017;178:172-178 pubmed publisher
    ..Assessing the CSF basally, under experimental conditions, or in the context of challenges or metabolic diseases can provide powerful insights about brain function...
  36. Mölzer C, Wallner M, Kern C, Tosevska A, Schwarz U, Zadnikar R, et al. Features of an altered AMPK metabolic pathway in Gilbert's Syndrome, and its role in metabolic health. Sci Rep. 2016;6:30051 pubmed publisher
    ..Herewith, we propose a new theory to explain why individuals having GS are leaner and healthier, and are therefore less likely to contract metabolic diseases or die prematurely thereof.
  37. Giroud M, Scheideler M. Long Non-Coding RNAs in Metabolic Organs and Energy Homeostasis. Int J Mol Sci. 2017;18: pubmed publisher
    ..In addition, we will discuss the impact of lncRNAs on metabolic diseases such as obesity and diabetes...
  38. Ramos Lopez O, Riezu Boj J, Milagro F, Martinez J. DNA methylation signatures at endoplasmic reticulum stress genes are associated with adiposity and insulin resistance. Mol Genet Metab. 2018;123:50-58 pubmed publisher
    ..and the subsequent endoplasmic reticulum (ER) stress has been involved in the onset and severity of several metabolic diseases. The aim of this study was to analyze the association of DNA methylation signatures at ER stress genes with ..
  39. Guzmán Ruiz M, Ramirez Corona A, Guerrero Vargas N, Sabath E, Ramirez Plascencia O, Fuentes Romero R, et al. Role of the Suprachiasmatic and Arcuate Nuclei in Diurnal Temperature Regulation in the Rat. J Neurosci. 2015;35:15419-29 pubmed publisher
    ..When circadian and metabolic systems are not well synchronized, individuals may develop metabolic diseases. The underlying mechanisms are unknown...
  40. Huang H, Yang L, Zhang P, Qiu K, Huang J, Chen Y, et al. Real-time tracking mitochondrial dynamic remodeling with two-photon phosphorescent iridium (III) complexes. Biomaterials. 2016;83:321-31 pubmed publisher
    ..fission and fusion is involved in severe human diseases such as Parkinson's disease, Alzheimer's disease, metabolic diseases, and cancers. Agents that can real-time track the mitochondrial dynamics are of great importance...
  41. Furll M. [Development and basics of metabolic monitoring in dairy cows. Focus on research in Eastern Germany and at the University of Leipzig, Germany]. Tierarztl Prax Ausg G Grosstiere Nutztiere. 2016;44:107-17 pubmed publisher
    ..These should be tested once a year/herd, if necessary as an inexpensive pool sample for approximately 50 €. ..
  42. Karadag A, Ozlu E, Lavery M. Cutaneous manifestations of diabetes mellitus and the metabolic syndrome. Clin Dermatol. 2018;36:89-93 pubmed publisher
    b>Metabolic diseases are commonly encountered in the Western world...
  43. Jiang S, Teague A, Tryggestad J, Aston C, Lyons T, Chernausek S. Effects of maternal diabetes and fetal sex on human placenta mitochondrial biogenesis. Placenta. 2017;57:26-32 pubmed publisher
    Abnormal placental function in maternal diabetes affects fetal health and can predispose offspring to metabolic diseases in later life...
  44. Yu Y, Davey R, Cochrane T, Learnihan V, Hanigan I, Bagheri N. Neighborhood walkability and hospital treatment costs: A first assessment. Prev Med. 2017;99:134-139 pubmed publisher
    ..public hospital admissions for the treatment of four diagnostic groups (cancers, endocrine, nutritional and metabolic diseases, circulatory diseases and respiratory diseases) were extracted from the ACT admitted patient care database ..
  45. Touch S, Clement K, Andre S. T Cell Populations and Functions Are Altered in Human Obesity and Type 2 Diabetes. Curr Diab Rep. 2017;17:81 pubmed publisher
    ..Whether these changes are adaptive to nutritional variations and/or contribute to the progression of metabolic diseases remains to be clarified...
  46. Vacchiano G, Maldonado A, Ros M, Di Lorenzo P, Pieri M. The cholesterol levels in median nerve and post-mortem interval evaluation. Forensic Sci Int. 2016;265:29-33 pubmed publisher
    ..Subsequently, 16 subjects who did not suffer of any neurological and/or metabolic diseases with known times and circumstances of death were enrolled...
  47. Katayama M, Sjögren R, Egan B, Krook A. miRNA let-7 expression is regulated by glucose and TNF-α by a remote upstream promoter. Biochem J. 2015;472:147-56 pubmed publisher
    ..regulate protein abundance and control diverse aspects of cellular processes and biological functions in metabolic diseases, such as obesity and type 2 diabetes (T2D)...
  48. Elliott D, Weinstock J. Nematodes and human therapeutic trials for inflammatory disease. Parasite Immunol. 2017;39: pubmed publisher
    Helminth infections likely provide a protective influence against some immune-mediated and metabolic diseases because helminth infection dramatically decreased in developed countries shortly before the explosive rise in the prevalence of ..
  49. Liu J. [Current status and changes of metabolic and bariatric surgery in China]. Zhonghua Wei Chang Wai Ke Za Zhi. 2017;20:378-382 pubmed
    ..obesity to treating Type 2 diabetes mellitus, and further to treating a series of obesity-associated metabolic diseases (including conditions in the endocrine system, circulatory system, respiratory system, reproductive system, ..
  50. Cokorinos E, Delmore J, Reyes A, Albuquerque B, Kjøbsted R, Jørgensen N, et al. Activation of Skeletal Muscle AMPK Promotes Glucose Disposal and Glucose Lowering in Non-human Primates and Mice. Cell Metab. 2017;25:1147-1159.e10 pubmed publisher
    The AMP-activated protein kinase (AMPK) is a potential therapeutic target for metabolic diseases based on its reported actions in the liver and skeletal muscle...
  51. Chan S, Tsai J, Shen C, Liao Y, Chen B. Oleate-induced PTX3 promotes head and neck squamous cell carcinoma metastasis through the up-regulation of vimentin. Oncotarget. 2017;8:41364-41378 pubmed publisher
    The association between metabolic diseases and the risk of developing cancer is emerging. However, the impact of long pentraxin-3 (PTX3) on dyslipidemia-associated tumor metastasis remains unknown...
  52. Wright A, Rudan I, Hastie N, Campbell H. A 'complexity' of urate transporters. Kidney Int. 2010;78:446-52 pubmed publisher
    ..randomization' analyses provides a powerful means of dissecting the role of urate in cardiovascular and metabolic diseases, where cause-and-effect influences are difficult to discern due to potential confounding...
  53. Wieser V, Adolph T, Enrich B, Moser P, Moschen A, Tilg H. Weight loss induced by bariatric surgery restores adipose tissue PNPLA3 expression. Liver Int. 2017;37:299-306 pubmed publisher
    ..However, the regulation and function of PNPLA3 in metabolic diseases remains unclear...
  54. Buglioni A, Burnett J. New Pharmacological Strategies to Increase cGMP. Annu Rev Med. 2016;67:229-43 pubmed publisher
    ..Some have already been approved, and others are currently under investigation. This review discusses the potential of novel drugs directly or indirectly targeting cGMP as well as the progress of research to date. ..
  55. Park E, Koo O, Lee B. Overexpressed human heme Oxygenase-1 decreases adipogenesis in pigs and porcine adipose-derived stem cells. Biochem Biophys Res Commun. 2015;467:935-40 pubmed publisher
    ..These results suggest that HO-1 overexpression reduces adipogenesis both in vivo and in vitro, which could support identification of therapeutic targets of obesity and related metabolic diseases.
  56. Bjerre Harpøth V, Storm A, Eslamizad M, Kuhla B, Larsen M. Effect of propylene glycol on adipose tissue mobilization in postpartum over-conditioned Holstein cows. J Dairy Sci. 2015;98:8581-96 pubmed publisher
    ..induce a 2-step adaption to lactation, reducing the immediate postpartum nadir and peak of plasma concentration of glucose and BHB, respectively; which is beneficial for postpartum cows at high risk of lipid-related metabolic diseases.
  57. Stanhope K. Sugar consumption, metabolic disease and obesity: The state of the controversy. Crit Rev Clin Lab Sci. 2016;53:52-67 pubmed publisher
    ..Yet, filling these evidence gaps may be necessary for supporting the policy changes that will help to turn the food environment into one that does not promote the development of obesity and metabolic disease. ..