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Glycerol metabolism disease

MedGen UID:
575210
Concept ID:
C0342762
Disease or Syndrome
Synonym: Disorder of glycerol metabolism
SNOMED CT: Disorder of glycerol metabolism (237977000)
 
Monarch Initiative: MONDO:0037807

Definition

A disease that has its basis in the disruption of glycerol metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Glycerol metabolism disease in Orphanet.

Professional guidelines

PubMed

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C
J Inherit Metab Dis 2019 Nov;42(6):1192-1230. Epub 2019 May 15 doi: 10.1002/jimd.12100. PMID: 30982989
Kaur G, Pinkston R, Mclemore B, Dorsey WC, Batra S
Eur Respir Rev 2018 Mar 31;27(147) Epub 2018 Feb 28 doi: 10.1183/16000617.0119-2017. PMID: 29491036Free PMC Article
Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670

Recent clinical studies

Etiology

da Silva IV, Soveral G
Adv Exp Med Biol 2023;1398:289-302. doi: 10.1007/978-981-19-7415-1_20. PMID: 36717502
Liu S, Gui Y, Wang MS, Zhang L, Xu T, Pan Y, Zhang K, Yu Y, Xiao L, Qiao Y, Bonin C, Hargis G, Huan T, Yu Y, Tao J, Zhang R, Kreutzer DL, Zhou Y, Tian XJ, Wang Y, Fu H, An X, Liu S, Zhou D
Mol Metab 2021 Dec;54:101367. Epub 2021 Nov 1 doi: 10.1016/j.molmet.2021.101367. PMID: 34737094Free PMC Article
Chen LR, Chen KH
Int J Mol Sci 2021 Mar 22;22(6) doi: 10.3390/ijms22063212. PMID: 33809928Free PMC Article
Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670
da Silva IV, Soveral G
Adv Exp Med Biol 2017;969:227-238. doi: 10.1007/978-94-024-1057-0_15. PMID: 28258577

Diagnosis

Liu S, Gui Y, Wang MS, Zhang L, Xu T, Pan Y, Zhang K, Yu Y, Xiao L, Qiao Y, Bonin C, Hargis G, Huan T, Yu Y, Tao J, Zhang R, Kreutzer DL, Zhou Y, Tian XJ, Wang Y, Fu H, An X, Liu S, Zhou D
Mol Metab 2021 Dec;54:101367. Epub 2021 Nov 1 doi: 10.1016/j.molmet.2021.101367. PMID: 34737094Free PMC Article
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C
J Inherit Metab Dis 2019 Nov;42(6):1192-1230. Epub 2019 May 15 doi: 10.1002/jimd.12100. PMID: 30982989
Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670
Jirsova K, Jones GLA
Cell Tissue Bank 2017 Jun;18(2):193-204. Epub 2017 Mar 2 doi: 10.1007/s10561-017-9618-5. PMID: 28255771
Wang S, Moustaid-Moussa N, Chen L, Mo H, Shastri A, Su R, Bapat P, Kwun I, Shen CL
J Nutr Biochem 2014 Jan;25(1):1-18. doi: 10.1016/j.jnutbio.2013.09.001. PMID: 24314860Free PMC Article

Therapy

Liu S, Gui Y, Wang MS, Zhang L, Xu T, Pan Y, Zhang K, Yu Y, Xiao L, Qiao Y, Bonin C, Hargis G, Huan T, Yu Y, Tao J, Zhang R, Kreutzer DL, Zhou Y, Tian XJ, Wang Y, Fu H, An X, Liu S, Zhou D
Mol Metab 2021 Dec;54:101367. Epub 2021 Nov 1 doi: 10.1016/j.molmet.2021.101367. PMID: 34737094Free PMC Article
Chen LR, Chen KH
Int J Mol Sci 2021 Mar 22;22(6) doi: 10.3390/ijms22063212. PMID: 33809928Free PMC Article
Wang S, Moustaid-Moussa N, Chen L, Mo H, Shastri A, Su R, Bapat P, Kwun I, Shen CL
J Nutr Biochem 2014 Jan;25(1):1-18. doi: 10.1016/j.jnutbio.2013.09.001. PMID: 24314860Free PMC Article
Croze ML, Soulage CO
Biochimie 2013 Oct;95(10):1811-27. Epub 2013 Jun 10 doi: 10.1016/j.biochi.2013.05.011. PMID: 23764390
Fluhr JW, Darlenski R, Surber C
Br J Dermatol 2008 Jul;159(1):23-34. Epub 2008 Jul 1 doi: 10.1111/j.1365-2133.2008.08643.x. PMID: 18510666

Prognosis

Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2022 Nov;9(11):1715-1726. Epub 2022 Oct 10 doi: 10.1002/acn3.51668. PMID: 36217298Free PMC Article
Liu S, Gui Y, Wang MS, Zhang L, Xu T, Pan Y, Zhang K, Yu Y, Xiao L, Qiao Y, Bonin C, Hargis G, Huan T, Yu Y, Tao J, Zhang R, Kreutzer DL, Zhou Y, Tian XJ, Wang Y, Fu H, An X, Liu S, Zhou D
Mol Metab 2021 Dec;54:101367. Epub 2021 Nov 1 doi: 10.1016/j.molmet.2021.101367. PMID: 34737094Free PMC Article
Yadav E, Yadav N, Hus A, Yadav JS
Respir Med 2020 Nov-Dec;174:106193. Epub 2020 Oct 17 doi: 10.1016/j.rmed.2020.106193. PMID: 33096317Free PMC Article
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Possik E, Madiraju SRM, Prentki M
Biochimie 2017 Dec;143:18-28. Epub 2017 Aug 5 doi: 10.1016/j.biochi.2017.08.001. PMID: 28826615

Clinical prediction guides

Luukkonen PK, Qadri S, Ahlholm N, Porthan K, Männistö V, Sammalkorpi H, Penttilä AK, Hakkarainen A, Lehtimäki TE, Gaggini M, Gastaldelli A, Ala-Korpela M, Orho-Melander M, Arola J, Juuti A, Pihlajamäki J, Hodson L, Yki-Järvinen H
J Hepatol 2022 Mar;76(3):526-535. Epub 2021 Oct 25 doi: 10.1016/j.jhep.2021.10.013. PMID: 34710482Free PMC Article
Liu S, Gui Y, Wang MS, Zhang L, Xu T, Pan Y, Zhang K, Yu Y, Xiao L, Qiao Y, Bonin C, Hargis G, Huan T, Yu Y, Tao J, Zhang R, Kreutzer DL, Zhou Y, Tian XJ, Wang Y, Fu H, An X, Liu S, Zhou D
Mol Metab 2021 Dec;54:101367. Epub 2021 Nov 1 doi: 10.1016/j.molmet.2021.101367. PMID: 34737094Free PMC Article
Bollag WB, Aitkens L, White J, Hyndman KA
Am J Physiol Cell Physiol 2020 Jun 1;318(6):C1144-C1153. Epub 2020 Apr 8 doi: 10.1152/ajpcell.00075.2020. PMID: 32267715Free PMC Article
Guasch-Ferré M, Santos JL, Martínez-González MA, Clish CB, Razquin C, Wang D, Liang L, Li J, Dennis C, Corella D, Muñoz-Bravo C, Romaguera D, Estruch R, Santos-Lozano JM, Castañer O, Alonso-Gómez A, Serra-Majem L, Ros E, Canudas S, Asensio EM, Fitó M, Pierce K, Martínez JA, Salas-Salvadó J, Toledo E, Hu FB, Ruiz-Canela M
Am J Clin Nutr 2020 Apr 1;111(4):835-844. doi: 10.1093/ajcn/nqaa016. PMID: 32060497Free PMC Article
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article

Recent systematic reviews

Marcondes-de-Mello ML, Serafim-Costa MC, Alves-E-Silva MM, Oliveira NR, Bertolucci-Caldo NV, Ferraz RK, Chaves VE
Biochimie 2020 Jan;168:210-219. Epub 2019 Nov 21 doi: 10.1016/j.biochi.2019.11.007. PMID: 31759936
Wall EC, Ajdukiewicz KM, Bergman H, Heyderman RS, Garner P
Cochrane Database Syst Rev 2018 Feb 6;2(2):CD008806. doi: 10.1002/14651858.CD008806.pub3. PMID: 29405037Free PMC Article
Qureshi MI, Greco M, Vorkas PA, Holmes E, Davies AH
J Proteome Res 2017 Jul 7;16(7):2325-2332. Epub 2017 Jun 19 doi: 10.1021/acs.jproteome.6b00894. PMID: 28287739

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