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Disorder of carnitine cycle and carnitine transport

MedGen UID:
1842227
Concept ID:
C5681080
Disease or Syndrome
Synonym: disorder of carnitine cycle and carnitine transport
 
Monarch Initiative: MONDO:0017716
Orphanet: ORPHA309130

Professional guidelines

PubMed

Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD
Mol Genet Metab 2021 Sep-Oct;134(1-2):37-42. Epub 2021 Jun 24 doi: 10.1016/j.ymgme.2021.06.007. PMID: 34176718Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Hadera MG, McDonald T, Smeland OB, Meisingset TW, Eloqayli H, Jaradat S, Borges K, Sonnewald U
Neurochem Res 2016 Feb;41(1-2):86-95. Epub 2015 Oct 3 doi: 10.1007/s11064-015-1728-5. PMID: 26433381

Recent clinical studies

Etiology

Barritt SA, DuBois-Coyne SE, Dibble CC
Nat Metab 2024 Jun;6(6):1008-1023. Epub 2024 Jun 13 doi: 10.1038/s42255-024-01059-y. PMID: 38871981
Palmieri F, Scarcia P, Monné M
Biomolecules 2020 Apr 23;10(4) doi: 10.3390/biom10040655. PMID: 32340404Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Noland RC
Prog Mol Biol Transl Sci 2015;135:39-74. Epub 2015 Jul 31 doi: 10.1016/bs.pmbts.2015.06.017. PMID: 26477910
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA
J Inherit Metab Dis 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. PMID: 2824920

Diagnosis

Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD
Mol Genet Metab 2021 Sep-Oct;134(1-2):37-42. Epub 2021 Jun 24 doi: 10.1016/j.ymgme.2021.06.007. PMID: 34176718Free PMC Article
Almannai M, Alfadhel M, El-Hattab AW
Molecules 2019 Sep 6;24(18) doi: 10.3390/molecules24183251. PMID: 31500110Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Wilcken B
Ann Acad Med Singap 2008 Dec;37(12 Suppl):71-3. PMID: 19904456
Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray JM, Bonnefont JP
J Inherit Metab Dis 1999 Jun;22(4):428-41. doi: 10.1023/a:1005552106301. PMID: 10407779

Therapy

Pallardó FV, Pagano G, Rodríguez LR, Gonzalez-Cabo P, Lyakhovich A, Trifuoggi M
Transl Res 2021 Mar;229:135-141. Epub 2020 Aug 22 doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735
Nigam SK
Annu Rev Pharmacol Toxicol 2018 Jan 6;58:663-687. doi: 10.1146/annurev-pharmtox-010617-052713. PMID: 29309257Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Hadera MG, McDonald T, Smeland OB, Meisingset TW, Eloqayli H, Jaradat S, Borges K, Sonnewald U
Neurochem Res 2016 Feb;41(1-2):86-95. Epub 2015 Oct 3 doi: 10.1007/s11064-015-1728-5. PMID: 26433381
Moczulski D, Majak I, Mamczur D
Postepy Hig Med Dosw (Online) 2009 Jun 8;63:266-77. PMID: 19535822

Prognosis

Pallardó FV, Pagano G, Rodríguez LR, Gonzalez-Cabo P, Lyakhovich A, Trifuoggi M
Transl Res 2021 Mar;229:135-141. Epub 2020 Aug 22 doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Omori Y, Ohtani T, Sakata Y, Mano T, Takeda Y, Tamaki S, Tsukamoto Y, Kamimura D, Aizawa Y, Miwa T, Komuro I, Soga T, Yamamoto K
J Hypertens 2012 Sep;30(9):1834-44. doi: 10.1097/HJH.0b013e3283569c5a. PMID: 22796714
Wilcken B
J Inherit Metab Dis 2010 Oct;33(5):501-6. Epub 2010 Jan 5 doi: 10.1007/s10545-009-9001-1. PMID: 20049534
Nohara R
Ann Nucl Med 2001 Oct;15(5):403-9. doi: 10.1007/BF02988343. PMID: 11758944

Clinical prediction guides

Peretz RH, Ah Mew N, Vernon HJ, Ganetzky RD
Mol Genet Metab 2021 Sep-Oct;134(1-2):37-42. Epub 2021 Jun 24 doi: 10.1016/j.ymgme.2021.06.007. PMID: 34176718Free PMC Article
MahmoudianDehkordi S, Ahmed AT, Bhattacharyya S, Han X, Baillie RA, Arnold M, Skime MK, John-Williams LS, Moseley MA, Thompson JW, Louie G, Riva-Posse P, Craighead WE, McDonald W, Krishnan R, Rush AJ, Frye MA, Dunlop BW, Weinshilboum RM, Kaddurah-Daouk R; Mood Disorders Precision Medicine Consortium (MDPMC)
Transl Psychiatry 2021 Mar 2;11(1):153. doi: 10.1038/s41398-020-01097-6. PMID: 33654056Free PMC Article
Mulder S, Hammarstedt A, Nagaraj SB, Nair V, Ju W, Hedberg J, Greasley PJ, Eriksson JW, Oscarsson J, Heerspink HJL
Diabetes Obes Metab 2020 Jul;22(7):1157-1166. Epub 2020 Mar 25 doi: 10.1111/dom.14018. PMID: 32115853Free PMC Article
Moczulski D, Majak I, Mamczur D
Postepy Hig Med Dosw (Online) 2009 Jun 8;63:266-77. PMID: 19535822
Matera M, Bellinghieri G, Costantino G, Santoro D, Calvani M, Savica V
J Ren Nutr 2003 Jan;13(1):2-14. doi: 10.1053/jren.2003.50010. PMID: 12563618

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