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Metabolic disease(Metabolic)

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
Synonym: Metabolic
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

Chen Q, Wang L, Li C, Hu W, Fan Y, Chen Z, Wu L, Lu Z, Ye J, Chen S, Tong J, Ruan L, Mei J, Lu H
J Am Heart Assoc 2021 Jun 15;10(12):e018451. Epub 2021 Jun 5 doi: 10.1161/JAHA.120.018451. PMID: 34096317Free PMC Article
Shen T, Zhuang L, Sun XD, Qi XS, Wang ZH, Li RD, Chang WX, Yang JY, Yang Y, Zheng SS, Xu X
World J Gastroenterol 2020 Jul 21;26(27):3851-3864. doi: 10.3748/wjg.v26.i27.3851. PMID: 32774062Free PMC Article
Gabriel BM, Zierath JR
Nat Rev Endocrinol 2019 Apr;15(4):197-206. doi: 10.1038/s41574-018-0150-x. PMID: 30655625
O'Rourke RW, Johnson GS, Purnell JQ, Courcoulas AP, Dakin GF, Garcia L, Hinojosa M, Mitchell JE, Pomp A, Pories WJ, Spaniolas K, Flum DR, Wahed AS, Wolfe BM
Int J Obes (Lond) 2019 Feb;43(2):285-296. Epub 2018 May 17 doi: 10.1038/s41366-018-0088-z. PMID: 29777230Free PMC Article
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

Diagnosis

Chen Q, Wang L, Li C, Hu W, Fan Y, Chen Z, Wu L, Lu Z, Ye J, Chen S, Tong J, Ruan L, Mei J, Lu H
J Am Heart Assoc 2021 Jun 15;10(12):e018451. Epub 2021 Jun 5 doi: 10.1161/JAHA.120.018451. PMID: 34096317Free PMC Article
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group.
Mol Genet Metab 2020 Dec;131(4):390-397. Epub 2020 Nov 7 doi: 10.1016/j.ymgme.2020.10.013. PMID: 33288448Free PMC Article
Tomaro-Duchesneau C, LeValley SL, Roeth D, Sun L, Horrigan FT, Kalkum M, Hyser JM, Britton RA
Sci Rep 2020 Mar 18;10(1):4922. doi: 10.1038/s41598-020-61112-0. PMID: 32188864Free PMC Article
Akduman H, Okulu E, Eminoğlu FT, Kendirli T, Tunç G, Azapağası E, Perk O, Erdeve Ö, Atasay B, Arsan S
Turk J Med Sci 2020 Feb 13;50(1):12-17. doi: 10.3906/sag-1811-8. PMID: 31014046Free 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

Leiter A, Carroll E, De Alwis S, Brooks D, Shimol JB, Eisenberg E, Wisnivesky JP, Galsky MD, Gallagher EJ
Eur J Endocrinol 2021 Jun;184(6):857-865. Epub 2021 May 10 doi: 10.1530/eje-20-1362. PMID: 34552304Free PMC Article
Kim NG, Sharma A, Saab S
Best Pract Res Clin Gastroenterol 2020 Jun - Aug;46-47:101683. Epub 2020 Sep 12 doi: 10.1016/j.bpg.2020.101683. PMID: 33158470
Shen T, Zhuang L, Sun XD, Qi XS, Wang ZH, Li RD, Chang WX, Yang JY, Yang Y, Zheng SS, Xu X
World J Gastroenterol 2020 Jul 21;26(27):3851-3864. doi: 10.3748/wjg.v26.i27.3851. PMID: 32774062Free PMC Article
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
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

Chen Q, Wang L, Li C, Hu W, Fan Y, Chen Z, Wu L, Lu Z, Ye J, Chen S, Tong J, Ruan L, Mei J, Lu H
J Am Heart Assoc 2021 Jun 15;10(12):e018451. Epub 2021 Jun 5 doi: 10.1161/JAHA.120.018451. PMID: 34096317Free PMC Article
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group.
Mol Genet Metab 2020 Dec;131(4):390-397. Epub 2020 Nov 7 doi: 10.1016/j.ymgme.2020.10.013. PMID: 33288448Free PMC Article
Alaaeddine RA, Mroueh A, Gust S, Eid AH, Plane F, El-Yazbi AF
Curr Opin Pharmacol 2019 Apr;45:33-41. Epub 2019 Apr 24 doi: 10.1016/j.coph.2019.03.007. PMID: 31031224
O'Rourke RW, Johnson GS, Purnell JQ, Courcoulas AP, Dakin GF, Garcia L, Hinojosa M, Mitchell JE, Pomp A, Pories WJ, Spaniolas K, Flum DR, Wahed AS, Wolfe BM
Int J Obes (Lond) 2019 Feb;43(2):285-296. Epub 2018 May 17 doi: 10.1038/s41366-018-0088-z. PMID: 29777230Free 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

Clinical prediction guides

Leiter A, Carroll E, De Alwis S, Brooks D, Shimol JB, Eisenberg E, Wisnivesky JP, Galsky MD, Gallagher EJ
Eur J Endocrinol 2021 Jun;184(6):857-865. Epub 2021 May 10 doi: 10.1530/eje-20-1362. PMID: 34552304Free PMC Article
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group.
Mol Genet Metab 2020 Dec;131(4):390-397. Epub 2020 Nov 7 doi: 10.1016/j.ymgme.2020.10.013. PMID: 33288448Free PMC Article
Chakaroun RM, Massier L, Kovacs P
Nutrients 2020 Apr 14;12(4) doi: 10.3390/nu12041082. PMID: 32295104Free PMC Article
Akduman H, Okulu E, Eminoğlu FT, Kendirli T, Tunç G, Azapağası E, Perk O, Erdeve Ö, Atasay B, Arsan S
Turk J Med Sci 2020 Feb 13;50(1):12-17. doi: 10.3906/sag-1811-8. PMID: 31014046Free PMC Article
O'Rourke RW, Johnson GS, Purnell JQ, Courcoulas AP, Dakin GF, Garcia L, Hinojosa M, Mitchell JE, Pomp A, Pories WJ, Spaniolas K, Flum DR, Wahed AS, Wolfe BM
Int J Obes (Lond) 2019 Feb;43(2):285-296. Epub 2018 May 17 doi: 10.1038/s41366-018-0088-z. PMID: 29777230Free PMC Article

Recent systematic reviews

Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO
Biochimie 2021 Apr;183:55-62. Epub 2021 Feb 14 doi: 10.1016/j.biochi.2021.02.003. PMID: 33596448
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
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
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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