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Metabolic disease

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
Synonym: metabolic disorder
SNOMED CT: MD - Metabolic disorders (75934005); Metabolic disease (75934005); Metabolic disorder (75934005); Generalized metabolic disorder (30390004)
 
Monarch Initiative: MONDO:0005066

Definition

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetabolic disease

Professional guidelines

PubMed

Cloete L
Nurs Stand 2022 Jan 5;37(1):61-66. Epub 2021 Oct 28 doi: 10.7748/ns.2021.e11709. PMID: 34708622
Gottlieb DJ, Punjabi NM
JAMA 2020 Apr 14;323(14):1389-1400. doi: 10.1001/jama.2020.3514. PMID: 32286648
Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490

Recent clinical studies

Etiology

Clemente-Suárez VJ, Mielgo-Ayuso J, Martín-Rodríguez A, Ramos-Campo DJ, Redondo-Flórez L, Tornero-Aguilera JF
Nutrients 2022 Sep 15;14(18) doi: 10.3390/nu14183809. PMID: 36145184Free PMC Article
Irwin GM
Prim Care 2019 Jun;46(2):249-255. Epub 2019 Apr 1 doi: 10.1016/j.pop.2019.02.006. PMID: 31030826
Weihrauch-Blüher S, Wiegand S
Curr Obes Rep 2018 Dec;7(4):254-259. doi: 10.1007/s13679-018-0320-0. PMID: 30315490
Kahleova H, Levin S, Barnard N
Nutrients 2017 Aug 9;9(8) doi: 10.3390/nu9080848. PMID: 28792455Free PMC Article
Steegers EA, von Dadelszen P, Duvekot JJ, Pijnenborg R
Lancet 2010 Aug 21;376(9741):631-44. Epub 2010 Jul 2 doi: 10.1016/S0140-6736(10)60279-6. PMID: 20598363

Diagnosis

Cloete L
Nurs Stand 2022 Jan 5;37(1):61-66. Epub 2021 Oct 28 doi: 10.7748/ns.2021.e11709. PMID: 34708622
Bertoli MJ, Sadoughifar R, Schwartz RA, Lotti TM, Janniger CK
Dermatol Ther 2020 Nov;33(6):e14055. Epub 2020 Aug 31 doi: 10.1111/dth.14055. PMID: 32700775
Irwin GM
Prim Care 2019 Jun;46(2):249-255. Epub 2019 Apr 1 doi: 10.1016/j.pop.2019.02.006. PMID: 31030826
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060
Steegers EA, von Dadelszen P, Duvekot JJ, Pijnenborg R
Lancet 2010 Aug 21;376(9741):631-44. Epub 2010 Jul 2 doi: 10.1016/S0140-6736(10)60279-6. PMID: 20598363

Therapy

Radford-Smith DE, Anthony DC
Nutrients 2023 Apr 13;15(8) doi: 10.3390/nu15081880. PMID: 37111100Free PMC Article
Stoeva MK, Garcia-So J, Justice N, Myers J, Tyagi S, Nemchek M, McMurdie PJ, Kolterman O, Eid J
Gut Microbes 2021 Jan-Dec;13(1):1-28. doi: 10.1080/19490976.2021.1907272. PMID: 33874858Free PMC Article
Adams JB, Audhya T, Geis E, Gehn E, Fimbres V, Pollard EL, Mitchell J, Ingram J, Hellmers R, Laake D, Matthews JS, Li K, Naviaux JC, Naviaux RK, Adams RL, Coleman DM, Quig DW
Nutrients 2018 Mar 17;10(3) doi: 10.3390/nu10030369. PMID: 29562612Free PMC Article
Zinöcker MK, Lindseth IA
Nutrients 2018 Mar 17;10(3) doi: 10.3390/nu10030365. PMID: 29562591Free PMC Article
Harvie MN, Pegington M, Mattson MP, Frystyk J, Dillon B, Evans G, Cuzick J, Jebb SA, Martin B, Cutler RG, Son TG, Maudsley S, Carlson OD, Egan JM, Flyvbjerg A, Howell A
Int J Obes (Lond) 2011 May;35(5):714-27. Epub 2010 Oct 5 doi: 10.1038/ijo.2010.171. PMID: 20921964Free PMC Article

Prognosis

Liang Y, Chen H, Liu Y, Hou X, Wei L, Bao Y, Yang C, Zong G, Wu J, Jia W
J Clin Endocrinol Metab 2022 Jan 1;107(1):88-97. doi: 10.1210/clinem/dgab641. PMID: 34508601Free PMC Article
Nanayakkara N, Curtis AJ, Heritier S, Gadowski AM, Pavkov ME, Kenealy T, Owens DR, Thomas RL, Song S, Wong J, Chan JC, Luk AO, Penno G, Ji L, Mohan V, Amutha A, Romero-Aroca P, Gasevic D, Magliano DJ, Teede HJ, Chalmers J, Zoungas S
Diabetologia 2021 Feb;64(2):275-287. Epub 2020 Dec 14 doi: 10.1007/s00125-020-05319-w. PMID: 33313987Free PMC Article
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article
Spaight C, Gross J, Horsch A, Puder JJ
Endocr Dev 2016;31:163-78. Epub 2016 Jan 19 doi: 10.1159/000439413. PMID: 26824237
Hak DJ, Fitzpatrick D, Bishop JA, Marsh JL, Tilp S, Schnettler R, Simpson H, Alt V
Injury 2014 Jun;45 Suppl 2:S3-7. doi: 10.1016/j.injury.2014.04.002. PMID: 24857025

Clinical prediction guides

Marrs C, Lonsdale D
Cells 2021 Sep 29;10(10) doi: 10.3390/cells10102595. PMID: 34685573Free PMC Article
Sheka AC, Adeyi O, Thompson J, Hameed B, Crawford PA, Ikramuddin S
JAMA 2020 Mar 24;323(12):1175-1183. doi: 10.1001/jama.2020.2298. PMID: 32207804
Lorenzo-Almorós A, Hang T, Peiró C, Soriano-Guillén L, Egido J, Tuñón J, Lorenzo Ó
Cardiovasc Diabetol 2019 Oct 30;18(1):140. doi: 10.1186/s12933-019-0935-9. PMID: 31666083Free PMC Article
Blaner WS
Pharmacol Ther 2019 May;197:153-178. Epub 2019 Jan 29 doi: 10.1016/j.pharmthera.2019.01.006. PMID: 30703416Free PMC Article
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060

Recent systematic reviews

Zhao X, An X, Yang C, Sun W, Ji H, Lian F
Front Endocrinol (Lausanne) 2023;14:1149239. Epub 2023 Mar 28 doi: 10.3389/fendo.2023.1149239. PMID: 37056675Free PMC Article
Beyer G, Hoffmeister A, Lorenz P, Lynen P, Lerch MM, Mayerle J
Dtsch Arztebl Int 2022 Jul 25;119(29-30):495-501. doi: 10.3238/arztebl.m2022.0223. PMID: 35945698Free PMC Article
Al Wattar BH, Fisher M, Bevington L, Talaulikar V, Davies M, Conway G, Yasmin E
J Clin Endocrinol Metab 2021 Jul 13;106(8):2436-2446. doi: 10.1210/clinem/dgab232. PMID: 33839790Free PMC Article
Cariou B, Byrne CD, Loomba R, Sanyal AJ
Diabetes Obes Metab 2021 May;23(5):1069-1083. Epub 2021 Feb 10 doi: 10.1111/dom.14322. PMID: 33464677Free PMC Article
Nanayakkara N, Curtis AJ, Heritier S, Gadowski AM, Pavkov ME, Kenealy T, Owens DR, Thomas RL, Song S, Wong J, Chan JC, Luk AO, Penno G, Ji L, Mohan V, Amutha A, Romero-Aroca P, Gasevic D, Magliano DJ, Teede HJ, Chalmers J, Zoungas S
Diabetologia 2021 Feb;64(2):275-287. Epub 2020 Dec 14 doi: 10.1007/s00125-020-05319-w. PMID: 33313987Free PMC Article

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