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Intermediary Metabolism Disorder

MedGen UID:
474863
Concept ID:
C3273230
Disease or Syndrome

Definition

An inborn metabolic disorder affecting the intermediary metabolism process. It results in accumulation of substances in the body that can cause acute or chronic intoxication. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntermediary Metabolism Disorder

Professional guidelines

PubMed

Rinella ME, Lazarus JV, Ratziu V, Francque SM, Sanyal AJ, Kanwal F, Romero D, Abdelmalek MF, Anstee QM, Arab JP, Arrese M, Bataller R, Beuers U, Boursier J, Bugianesi E, Byrne CD, Castro Narro GE, Chowdhury A, Cortez-Pinto H, Cryer DR, Cusi K, El-Kassas M, Klein S, Eskridge W, Fan J, Gawrieh S, Guy CD, Harrison SA, Kim SU, Koot BG, Korenjak M, Kowdley KV, Lacaille F, Loomba R, Mitchell-Thain R, Morgan TR, Powell EE, Roden M, Romero-Gómez M, Silva M, Singh SP, Sookoian SC, Spearman CW, Tiniakos D, Valenti L, Vos MB, Wong VW, Xanthakos S, Yilmaz Y, Younossi Z, Hobbs A, Villota-Rivas M, Newsome PN; NAFLD Nomenclature consensus group
Hepatology 2023 Dec 1;78(6):1966-1986. Epub 2023 Jun 24 doi: 10.1097/HEP.0000000000000520. PMID: 37363821Free PMC Article
Bornstein SR, Allolio B, Arlt W, Barthel A, Don-Wauchope A, Hammer GD, Husebye ES, Merke DP, Murad MH, Stratakis CA, Torpy DJ
J Clin Endocrinol Metab 2016 Feb;101(2):364-89. Epub 2016 Jan 13 doi: 10.1210/jc.2015-1710. PMID: 26760044Free PMC Article
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

Recent clinical studies

Etiology

Giudice V, Selleri C
Semin Hematol 2022 Jan;59(1):13-20. Epub 2022 Jan 5 doi: 10.1053/j.seminhematol.2021.12.002. PMID: 35491054
Frye M, Harada BT, Behm M, He C
Science 2018 Sep 28;361(6409):1346-1349. doi: 10.1126/science.aau1646. PMID: 30262497Free PMC Article
Shimabukuro-Vornhagen A, Gödel P, Subklewe M, Stemmler HJ, Schlößer HA, Schlaak M, Kochanek M, Böll B, von Bergwelt-Baildon MS
J Immunother Cancer 2018 Jun 15;6(1):56. doi: 10.1186/s40425-018-0343-9. PMID: 29907163Free PMC Article
Kang R, Chen R, Zhang Q, Hou W, Wu S, Cao L, Huang J, Yu Y, Fan XG, Yan Z, Sun X, Wang H, Wang Q, Tsung A, Billiar TR, Zeh HJ 3rd, Lotze MT, Tang D
Mol Aspects Med 2014 Dec;40:1-116. Epub 2014 Jul 8 doi: 10.1016/j.mam.2014.05.001. PMID: 25010388Free PMC Article
Dantzer R, O'Connor JC, Freund GG, Johnson RW, Kelley KW
Nat Rev Neurosci 2008 Jan;9(1):46-56. doi: 10.1038/nrn2297. PMID: 18073775Free PMC Article

Diagnosis

Sakers A, De Siqueira MK, Seale P, Villanueva CJ
Cell 2022 Feb 3;185(3):419-446. doi: 10.1016/j.cell.2021.12.016. PMID: 35120662Free PMC Article
Zhang L, Lu Q, Chang C
Adv Exp Med Biol 2020;1253:3-55. doi: 10.1007/978-981-15-3449-2_1. PMID: 32445090
Kang R, Chen R, Zhang Q, Hou W, Wu S, Cao L, Huang J, Yu Y, Fan XG, Yan Z, Sun X, Wang H, Wang Q, Tsung A, Billiar TR, Zeh HJ 3rd, Lotze MT, Tang D
Mol Aspects Med 2014 Dec;40:1-116. Epub 2014 Jul 8 doi: 10.1016/j.mam.2014.05.001. PMID: 25010388Free PMC Article
Zeman MK, Cimprich KA
Nat Cell Biol 2014 Jan;16(1):2-9. doi: 10.1038/ncb2897. PMID: 24366029Free PMC Article
Naviaux RK
Mitochondrion 2014 May;16:7-17. Epub 2013 Aug 24 doi: 10.1016/j.mito.2013.08.006. PMID: 23981537

Therapy

Karagaiah P, Valle Y, Sigova J, Zerbinati N, Vojvodic P, Parsad D, Schwartz RA, Grabbe S, Goldust M, Lotti T
Expert Opin Emerg Drugs 2020 Mar;25(1):7-24. Epub 2020 Feb 3 doi: 10.1080/14728214.2020.1712358. PMID: 31958256
Kaur Gill A, Bansal Y, Bhandari R, Kaur S, Kaur J, Singh R, Kuhad A, Kuhad A
Drugs Today (Barc) 2019 Jul;55(7):423-437. doi: 10.1358/dot.2019.55.7.2958474. PMID: 31347611
Platten M, Nollen EAA, Röhrig UF, Fallarino F, Opitz CA
Nat Rev Drug Discov 2019 May;18(5):379-401. doi: 10.1038/s41573-019-0016-5. PMID: 30760888
Widmer RJ, Flammer AJ, Lerman LO, Lerman A
Am J Med 2015 Mar;128(3):229-38. Epub 2014 Oct 15 doi: 10.1016/j.amjmed.2014.10.014. PMID: 25447615Free PMC Article
Moen I, Stuhr LE
Target Oncol 2012 Dec;7(4):233-42. Epub 2012 Oct 2 doi: 10.1007/s11523-012-0233-x. PMID: 23054400Free PMC Article

Prognosis

Wang Y, Yan Q, Fan C, Mo Y, Wang Y, Li X, Liao Q, Guo C, Li G, Zeng Z, Xiong W, Huang H
Sci China Life Sci 2023 Nov;66(11):2515-2526. Epub 2023 Apr 13 doi: 10.1007/s11427-022-2240-6. PMID: 37071289Free PMC Article
Tsang B, Pritišanac I, Scherer SW, Moses AM, Forman-Kay JD
Cell 2020 Dec 23;183(7):1742-1756. doi: 10.1016/j.cell.2020.11.050. PMID: 33357399
Kraus WE, Powell KE, Haskell WL, Janz KF, Campbell WW, Jakicic JM, Troiano RP, Sprow K, Torres A, Piercy KL; 2018 PHYSICAL ACTIVITY GUIDELINES ADVISORY COMMITTEE*
Med Sci Sports Exerc 2019 Jun;51(6):1270-1281. doi: 10.1249/MSS.0000000000001939. PMID: 31095084Free PMC Article
Lee DH, Keum N, Hu FB, Orav EJ, Rimm EB, Willett WC, Giovannucci EL
BMJ 2018 Jul 3;362:k2575. doi: 10.1136/bmj.k2575. PMID: 29970408Free PMC Article
McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article

Clinical prediction guides

Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS
Ann Oncol 2022 Jun;33(6):578-592. Epub 2022 Mar 23 doi: 10.1016/j.annonc.2022.03.011. PMID: 35339647
Alexander Y, Osto E, Schmidt-Trucksäss A, Shechter M, Trifunovic D, Duncker DJ, Aboyans V, Bäck M, Badimon L, Cosentino F, De Carlo M, Dorobantu M, Harrison DG, Guzik TJ, Hoefer I, Morris PD, Norata GD, Suades R, Taddei S, Vilahur G, Waltenberger J, Weber C, Wilkinson F, Bochaton-Piallat ML, Evans PC
Cardiovasc Res 2021 Jan 1;117(1):29-42. doi: 10.1093/cvr/cvaa085. PMID: 32282914Free PMC Article
Tsang B, Pritišanac I, Scherer SW, Moses AM, Forman-Kay JD
Cell 2020 Dec 23;183(7):1742-1756. doi: 10.1016/j.cell.2020.11.050. PMID: 33357399
Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W
Am J Hum Genet 2016 Oct 6;99(4):877-885. Epub 2016 Sep 22 doi: 10.1016/j.ajhg.2016.08.016. PMID: 27666373Free PMC Article
Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR; ReproGen Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; RACI Consortium, Purcell S, Stahl E, Lindstrom S, Perry JR, Okada Y, Raychaudhuri S, Daly MJ, Patterson N, Neale BM, Price AL
Nat Genet 2015 Nov;47(11):1228-35. Epub 2015 Sep 28 doi: 10.1038/ng.3404. PMID: 26414678Free PMC Article

Recent systematic reviews

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Wu D, Shi Y, Zhang H, Miao C
Cell Death Dis 2023 Feb 11;14(2):112. doi: 10.1038/s41419-023-05656-9. PMID: 36774341Free PMC Article
Zhang Y, Xin L, Xiang M, Shang C, Wang Y, Wang Y, Cui X, Lu Y
Biomed Pharmacother 2022 Jan;145:112423. Epub 2021 Nov 17 doi: 10.1016/j.biopha.2021.112423. PMID: 34800783
Kreider RB, Stout JR
Nutrients 2021 Jan 29;13(2) doi: 10.3390/nu13020447. PMID: 33572884Free PMC Article
Papadaki A, Nolen-Doerr E, Mantzoros CS
Nutrients 2020 Oct 30;12(11) doi: 10.3390/nu12113342. PMID: 33143083Free PMC Article

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