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Metabolic disease

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
Synonyms: Disease, Metabolic; Diseases, Metabolic; Metabolic Disease; Metabolic Diseases; Thesaurismoses; Thesaurismosis
SNOMED CT: MD - Metabolic disorders (75934005); Metabolic disease (75934005); Metabolic disorder (75934005); Generalized metabolic disorder (30390004)
 

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

Langer A, Holle R, John J
BMC Health Serv Res 2012 Sep 4;12:300. doi: 10.1186/1472-6963-12-300. PMID: 22947299Free PMC Article

Recent clinical studies

Etiology

Gabriel BM, Zierath JR
Nat Rev Endocrinol 2019 Apr;15(4):197-206. doi: 10.1038/s41574-018-0150-x. PMID: 30655625
Cassidy S, Fuller H, Chau J, Catt M, Bauman A, Trenell MI
Acta Diabetol 2018 Sep;55(9):975-979. Epub 2018 May 28 doi: 10.1007/s00592-018-1161-8. PMID: 29808390Free PMC Article
Reynolds AC, Paterson JL, Ferguson SA, Stanley D, Wright KP Jr, Dawson D
Sleep Med Rev 2017 Aug;34:3-9. Epub 2016 Jul 11 doi: 10.1016/j.smrv.2016.06.009. PMID: 27568341
Stegemann R, Buchner DA
Semin Cell Dev Biol 2015 Jul;43:131-140. Epub 2015 Apr 29 doi: 10.1016/j.semcdb.2015.04.007. PMID: 25937492Free PMC Article
Wickrama KK, O'Neal CW, Lee TK, Wickrama T
Health Psychol 2015 Sep;34(9):905-14. Epub 2015 Mar 23 doi: 10.1037/hea0000208. PMID: 25798543

Diagnosis

Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T
J Pediatr Endocrinol Metab 2019 May 27;32(5):537-541. doi: 10.1515/jpem-2018-0356. PMID: 31075084
Hege A, Lemke MK, Apostolopoulos Y, Sönmez S
PLoS One 2018;13(11):e0207322. Epub 2018 Nov 15 doi: 10.1371/journal.pone.0207322. PMID: 30439996Free PMC Article
Timmons JA, Atherton PJ, Larsson O, Sood S, Blokhin IO, Brogan RJ, Volmar CH, Josse AR, Slentz C, Wahlestedt C, Phillips SM, Phillips BE, Gallagher IJ, Kraus WE
Nucleic Acids Res 2018 Sep 6;46(15):7772-7792. doi: 10.1093/nar/gky570. PMID: 29986096Free PMC Article
Zinöcker MK, Lindseth IA
Nutrients 2018 Mar 17;10(3) doi: 10.3390/nu10030365. PMID: 29562591Free PMC Article
Stegemann R, Buchner DA
Semin Cell Dev Biol 2015 Jul;43:131-140. Epub 2015 Apr 29 doi: 10.1016/j.semcdb.2015.04.007. PMID: 25937492Free PMC Article

Therapy

Lee YJ, Song S, Song Y
Yonsei Med J 2018 Sep;59(7):834-842. doi: 10.3349/ymj.2018.59.7.834. PMID: 30091316Free PMC Article
Peterson KR, Cottam MA, Kennedy AJ, Hasty AH
Trends Pharmacol Sci 2018 Jun;39(6):536-546. Epub 2018 Apr 5 doi: 10.1016/j.tips.2018.03.001. PMID: 29628274Free PMC Article
Wijesuriya M, Fountoulakis N, Guess N, Banneheka S, Vasantharajah L, Gulliford M, Viberti G, Gnudi L, Karalliedde J
BMC Med 2017 Aug 30;15(1):146. doi: 10.1186/s12916-017-0905-6. PMID: 28851373Free PMC Article
Guo J
Chin J Integr Med 2017 Jun;23(6):403-409. Epub 2017 Aug 10 doi: 10.1007/s11655-017-2811-3. PMID: 28795381
Reynolds AC, Paterson JL, Ferguson SA, Stanley D, Wright KP Jr, Dawson D
Sleep Med Rev 2017 Aug;34:3-9. Epub 2016 Jul 11 doi: 10.1016/j.smrv.2016.06.009. PMID: 27568341

Prognosis

Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T
J Pediatr Endocrinol Metab 2019 May 27;32(5):537-541. doi: 10.1515/jpem-2018-0356. PMID: 31075084
Hege A, Lemke MK, Apostolopoulos Y, Sönmez S
PLoS One 2018;13(11):e0207322. Epub 2018 Nov 15 doi: 10.1371/journal.pone.0207322. PMID: 30439996Free PMC Article
Wijesuriya M, Fountoulakis N, Guess N, Banneheka S, Vasantharajah L, Gulliford M, Viberti G, Gnudi L, Karalliedde J
BMC Med 2017 Aug 30;15(1):146. doi: 10.1186/s12916-017-0905-6. PMID: 28851373Free PMC Article
Wickrama KK, O'Neal CW, Lee TK, Wickrama T
Health Psychol 2015 Sep;34(9):905-14. Epub 2015 Mar 23 doi: 10.1037/hea0000208. PMID: 25798543
Parrett AL, Valentine RJ, Arngrímsson SA, Castelli DM, Evans EM
Appl Physiol Nutr Metab 2011 Feb;36(1):72-9. doi: 10.1139/H10-083. PMID: 21326380

Clinical prediction guides

Hege A, Lemke MK, Apostolopoulos Y, Sönmez S
PLoS One 2018;13(11):e0207322. Epub 2018 Nov 15 doi: 10.1371/journal.pone.0207322. PMID: 30439996Free PMC Article
Phang M, Skilton MR
Mar Drugs 2018 Apr 24;16(5) doi: 10.3390/md16050138. PMID: 29695082Free PMC Article
Hidese S, Asano S, Saito K, Sasayama D, Kunugi H
J Psychiatr Res 2018 Jul;102:23-28. Epub 2018 Feb 10 doi: 10.1016/j.jpsychires.2018.02.009. PMID: 29567524
Wijesuriya M, Fountoulakis N, Guess N, Banneheka S, Vasantharajah L, Gulliford M, Viberti G, Gnudi L, Karalliedde J
BMC Med 2017 Aug 30;15(1):146. doi: 10.1186/s12916-017-0905-6. PMID: 28851373Free PMC Article
Parrett AL, Valentine RJ, Arngrímsson SA, Castelli DM, Evans EM
Appl Physiol Nutr Metab 2011 Feb;36(1):72-9. doi: 10.1139/H10-083. PMID: 21326380

Recent systematic reviews

Carrera-Quintanar L, Ortuño-Sahagún D, Franco-Arroyo NN, Viveros-Paredes JM, Zepeda-Morales AS, Lopez-Roa RI
Int J Mol Sci 2018 Nov 30;19(12) doi: 10.3390/ijms19123827. PMID: 30513674Free PMC Article
Gibbs JC, Gagnon DH, Bergquist AJ, Arel J, Cervinka T, El-Kotob R, Maltais DB, Wolfe DL, Craven BC
J Spinal Cord Med 2017 Nov;40(6):733-747. Epub 2017 Jul 13 doi: 10.1080/10790268.2017.1350341. PMID: 28703038Free PMC Article
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA
Curr Med Res Opin 2017 May;33(5):877-890. Epub 2017 Mar 2 doi: 10.1080/03007995.2017.1294054. PMID: 28276873
Kratz M, Baars T, Guyenet S
Eur J Nutr 2013 Feb;52(1):1-24. Epub 2012 Jul 19 doi: 10.1007/s00394-012-0418-1. PMID: 22810464
McNamara BJ, Gubhaju L, Chamberlain C, Stanley F, Eades SJ
Int J Epidemiol 2012 Dec;41(6):1661-82. Epub 2012 Dec 3 doi: 10.1093/ije/dys190. PMID: 23211415

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