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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

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
Katsuragi S, Okamura T, Kokubo Y, Watanabe M, Higashiyama A, Ikeda T, Miyamoto Y
J Obstet Gynaecol Res 2020 Mar;46(3):517-526. Epub 2020 Jan 20 doi: 10.1111/jog.14206. PMID: 31960522
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

Chang YW, Sung FC, Tzeng YL, Mou CH, Tien PT, Su CW, Teng YK
Int J Environ Res Public Health 2021 Dec 28;19(1) doi: 10.3390/ijerph19010305. PMID: 35010564Free PMC Article
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

Therapy

Fan D, Liu C, Zhang Z, Huang K, Wang T, Chen S, Li Z
Molecules 2022 Nov 3;27(21) doi: 10.3390/molecules27217524. PMID: 36364370Free PMC Article
Montaniel KRC, Bucher M, Phillips EA, Li C, Sullivan EL, Kievit P, Rugonyi S, Nathanielsz PW, Maloyan A
J Dev Orig Health Dis 2022 Dec;13(6):727-740. Epub 2022 Jan 24 doi: 10.1017/S2040174422000010. PMID: 35068408Free PMC Article
Ha J, Park SH, Park SS, Han S
J Clin Endocrinol Metab 2022 Mar 24;107(4):943-952. doi: 10.1210/clinem/dgab900. PMID: 34905058
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

Prognosis

Ratajczak W, Atkinson SD, Kelly C
Rev Endocr Metab Disord 2022 Jun;23(3):449-462. Epub 2021 Sep 20 doi: 10.1007/s11154-021-09688-4. PMID: 34542797Free PMC Article
Chang YW, Sung FC, Tzeng YL, Mou CH, Tien PT, Su CW, Teng YK
Int J Environ Res Public Health 2021 Dec 28;19(1) doi: 10.3390/ijerph19010305. PMID: 35010564Free PMC Article
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
Frisbee JC, Halvorson BD, Lewis MT, Wiseman RW
Exp Physiol 2020 Sep;105(9):1431-1439. Epub 2020 Mar 29 doi: 10.1113/EP087871. PMID: 32045062
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

Clinical prediction guides

Ratajczak W, Atkinson SD, Kelly C
Rev Endocr Metab Disord 2022 Jun;23(3):449-462. Epub 2021 Sep 20 doi: 10.1007/s11154-021-09688-4. PMID: 34542797Free PMC Article
Nagata JM, Vittinghoff E, Pettee Gabriel K, Garber AK, Moran AE, Rana JS, Reis JP, Sidney S, Bibbins-Domingo K
Br J Sports Med 2022 Aug;56(15):847-853. Epub 2021 Sep 14 doi: 10.1136/bjsports-2021-104231. PMID: 34521685Free PMC Article
Chakaroun RM, Massier L, Kovacs P
Nutrients 2020 Apr 14;12(4) doi: 10.3390/nu12041082. PMID: 32295104Free PMC Article
Frisbee JC, Halvorson BD, Lewis MT, Wiseman RW
Exp Physiol 2020 Sep;105(9):1431-1439. Epub 2020 Mar 29 doi: 10.1113/EP087871. PMID: 32045062
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

van den Berk Clark C, Kansara V, Fedorova M, Ju T, Renirie T, Lee J, Kao J, Opada ET, Scherrer JF
J Psychosom Res 2022 Jun;157:110793. Epub 2022 Mar 23 doi: 10.1016/j.jpsychores.2022.110793. PMID: 35339907Free PMC Article
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
Williams GM, Tapsell LC, O'Brien CL, Tosh SM, Barrett EM, Beck EJ
Nutr Rev 2021 Oct 11;79(11):1274-1292. doi: 10.1093/nutrit/nuaa128. PMID: 33369654
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

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