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Carnitine deficiency

MedGen UID:
222973
Concept ID:
C1142132
Disease or Syndrome
SNOMED CT: Carnitine deficiency (421784001)

Professional guidelines

PubMed

Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z
Orphanet J Rare Dis 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. PMID: 35193651Free PMC Article
Chen YC, Chien YH, Chen PW, Leung-Sang Tang N, Chiu PC, Hwu WL, Lee NC
Hum Mutat 2013 Apr;34(4):655. doi: 10.1002/humu.22286. PMID: 23520115
Yamak A, Bitar F, Karam P, Nemer G
Clin Genet 2007 Jul;72(1):59-62. doi: 10.1111/j.1399-0004.2007.00814.x. PMID: 17594400

Recent clinical studies

Etiology

Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z
Orphanet J Rare Dis 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. PMID: 35193651Free PMC Article
Wu J, Li J, Jing W, Tian X, Wang X
Epilepsy Behav 2021 Jul;120:107967. Epub 2021 May 15 doi: 10.1016/j.yebeh.2021.107967. PMID: 34004407
Johri AM, Heyland DK, Hétu MF, Crawford B, Spence JD
Nutr Metab Cardiovasc Dis 2014 Aug;24(8):808-14. Epub 2014 Apr 3 doi: 10.1016/j.numecd.2014.03.007. PMID: 24837277
Wortmann RL
Curr Opin Rheumatol 1991 Dec;3(6):925-33. doi: 10.1097/00002281-199112000-00005. PMID: 1772746
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

Huang X, Wu D, Zhu L, Wang W, Yang R, Yang J, He Q, Zhu B, You Y, Xiao R, Zhao Z
Orphanet J Rare Dis 2022 Feb 21;17(1):66. doi: 10.1186/s13023-022-02231-x. PMID: 35193651Free PMC Article
Almannai M, Alfadhel M, El-Hattab AW
Molecules 2019 Sep 6;24(18) doi: 10.3390/molecules24183251. PMID: 31500110Free PMC Article
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N
Hum Mutat 2017 Dec;38(12):1684-1699. Epub 2017 Sep 14 doi: 10.1002/humu.23315. PMID: 28841266Free PMC Article
Longo N, Frigeni M, Pasquali M
Biochim Biophys Acta 2016 Oct;1863(10):2422-35. Epub 2016 Jan 29 doi: 10.1016/j.bbamcr.2016.01.023. PMID: 26828774Free PMC Article
Gilbert-Barness E, Marshall RJ
W V Med J 2000 Jan-Feb;96(1):352-6. PMID: 10734798

Therapy

Winter S
Ann Nutr Metab 2016;68 Suppl 3:V-VI. Epub 2016 Dec 9 doi: 10.1159/000448319. PMID: 27931016
Longo N, Frigeni M, Pasquali M
Biochim Biophys Acta 2016 Oct;1863(10):2422-35. Epub 2016 Jan 29 doi: 10.1016/j.bbamcr.2016.01.023. PMID: 26828774Free PMC Article
Odle J, Adams SH, Vockley J
Adv Nutr 2014 May;5(3):289-90. Epub 2014 May 14 doi: 10.3945/an.113.005199. PMID: 24829475Free PMC Article
Lancet 1990 Mar 17;335(8690):631-3. PMID: 1969018
Carroll JE, Carter AL, Perlman S
J Nutr 1987 Sep;117(9):1501-3. doi: 10.1093/jn/117.9.1501. PMID: 3309207

Prognosis

Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N
Hum Mutat 2017 Dec;38(12):1684-1699. Epub 2017 Sep 14 doi: 10.1002/humu.23315. PMID: 28841266Free PMC Article
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Eknoyan G, Latos DL, Lindberg J; National Kidney Foundation Carnitine Consensus Conference
Am J Kidney Dis 2003 Apr;41(4):868-76. doi: 10.1016/s0272-6386(03)00110-0. PMID: 12666074
Ballaban-Gil K, Callahan C, O'Dell C, Pappo M, Moshé S, Shinnar S
Epilepsia 1998 Jul;39(7):744-8. doi: 10.1111/j.1528-1157.1998.tb01160.x. PMID: 9670903
Sewell AC, Bender SW, Wirth S, Münterfering H, Ijlist L, Wanders RJ
Eur J Pediatr 1994 Oct;153(10):745-50. doi: 10.1007/BF01954492. PMID: 7813533

Clinical prediction guides

Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N
Hum Mutat 2017 Dec;38(12):1684-1699. Epub 2017 Sep 14 doi: 10.1002/humu.23315. PMID: 28841266Free PMC Article
Savica V, Bellinghieri G
Clin Ter 1997 May-Jun;148(5-6):229-36. PMID: 9377858
Wortmann RL
Curr Opin Rheumatol 1991 Dec;3(6):925-33. doi: 10.1097/00002281-199112000-00005. PMID: 1772746
Duran M, Loof NE, Ketting D, Dorland L
J Clin Chem Clin Biochem 1990 May;28(5):359-63. PMID: 2199597
FRAENKEL GS
J Nutr 1958 Jul 10;65(3):361-95. doi: 10.1093/jn/65.3.361. PMID: 13576220

Recent systematic reviews

Zhou J, Li G, Zeng Y, Qiu X, Zhao P, Huang T, Wang X, Luo J, Lin N, Xu L
Orphanet J Rare Dis 2024 Jul 3;19(1):248. doi: 10.1186/s13023-024-03267-x. PMID: 38961493Free PMC Article
Nishioka N, Luo Y, Taniguchi T, Ohnishi T, Kimachi M, Ng RC, Watanabe N
Cochrane Database Syst Rev 2022 Dec 6;12(12):CD013601. doi: 10.1002/14651858.CD013601.pub2. PMID: 36472884Free PMC Article
Chewcharat A, Chewcharat P, Liu W, Cellini J, Phipps EA, Melendez Young JA, Nigwekar SU
PLoS One 2022;17(7):e0271307. Epub 2022 Jul 14 doi: 10.1371/journal.pone.0271307. PMID: 35834513Free PMC Article
Salguero Olid A, Blanco Sánchez G, Alonso Ojembarrena A
Farm Hosp 2018 Jul 1;42(4):168-173. doi: 10.7399/fh.10976. PMID: 29959842
Marx W, Teleni L, Opie RS, Kelly J, Marshall S, Itsiopoulos C, Isenring E
Nutrients 2017 Nov 7;9(11) doi: 10.3390/nu9111224. PMID: 29112178Free PMC Article

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