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Carnitine deficiency

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

Professional guidelines

PubMed

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.
Cheng Y, Chen P, Yu Z, Yin X, Zhang C, Miao H, Huang X
Clin Chim Acta 2023 Mar 1;542:117266. Epub 2023 Feb 21 doi: 10.1016/j.cca.2023.117266. PMID: 36822454
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
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
Treatment of carnitine deficiency.
Winter SC
J Inherit Metab Dis 2003;26(2-3):171-80. doi: 10.1023/a:1024433100257. PMID: 12889658

Recent clinical studies

Etiology

Carnitine derivatives beyond fatigue: an update.
Malaguarnera M, Catania VE, Malaguarnera M
Curr Opin Gastroenterol 2023 Mar 1;39(2):125-128. Epub 2023 Jan 5 doi: 10.1097/MOG.0000000000000906. PMID: 36821461Free PMC Article
Valproic acid-induced encephalopathy: A review of clinical features, risk factors, diagnosis, and treatment.
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
Enzymology of the carnitine biosynthesis pathway.
Strijbis K, Vaz FM, Distel B
IUBMB Life 2010 May;62(5):357-62. doi: 10.1002/iub.323. PMID: 20306513
Parenteral nutrition-associated liver complications in children.
Btaiche IF, Khalidi N
Pharmacotherapy 2002 Feb;22(2):188-211. doi: 10.1592/phco.22.3.188.33553. PMID: 11837558
Metabolic myopathies.
Wortmann RL
Curr Opin Rheumatol 1991 Dec;3(6):925-33. doi: 10.1097/00002281-199112000-00005. PMID: 1772746

Diagnosis

Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW
Molecules 2019 Sep 6;24(18) doi: 10.3390/molecules24183251. PMID: 31500110Free PMC Article
Functional and molecular studies in primary carnitine deficiency.
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
Carnitine transport and fatty acid oxidation.
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
Lipid storage myopathy.
Liang WC, Nishino I
Curr Neurol Neurosci Rep 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. PMID: 21046290
Systemic carnitine deficiency.
McGarry JD, Foster DW
N Engl J Med 1980 Dec 11;303(24):1413-5. doi: 10.1056/NEJM198012113032410. PMID: 7432389

Therapy

Foreword.
Winter S
Ann Nutr Metab 2016;68 Suppl 3:V-VI. Epub 2016 Dec 9 doi: 10.1159/000448319. PMID: 27931016
L-carnitine.
Med Lett Drugs Ther 2004 Nov 22;46(1196):95-6. PMID: 15557875
Valproate-induced hyperammonemic encephalopathy.
Verrotti A, Trotta D, Morgese G, Chiarelli F
Metab Brain Dis 2002 Dec;17(4):367-73. doi: 10.1023/a:1021918104127. PMID: 12602513
Carnitine deficiency.
Lancet 1990 Mar 17;335(8690):631-3. PMID: 1969018
Systemic carnitine deficiency.
McGarry JD, Foster DW
N Engl J Med 1980 Dec 11;303(24):1413-5. doi: 10.1056/NEJM198012113032410. PMID: 7432389

Prognosis

The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation.
Galluccio M, Tripicchio M, Pochini L
Int J Mol Sci 2024 Aug 10;25(16) doi: 10.3390/ijms25168743. PMID: 39201429Free PMC Article
Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.
Jing J, Zhang C, Du S, Tan X, Yue X, Qiao D
Cardiovasc Pathol 2024 May-Jun;70:107630. Epub 2024 Mar 14 doi: 10.1016/j.carpath.2024.107630. PMID: 38490313
Functional and molecular studies in primary carnitine deficiency.
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
Hemodialysis Associated with Severe and Unpredictable Hypoglycemia.
Hisano Y, Kaneto H, Kimura T, Ota T, Kamao T, Uno M, Mizushima T, Mune T, Kaku K
Intern Med 2016;55(4):365-8. Epub 2016 Feb 15 doi: 10.2169/internalmedicine.55.4495. PMID: 26875961
Risk factors and metabolic mechanisms in the pathogenesis of uraemic cardiac disease.
Bhandari S
Front Biosci (Landmark Ed) 2011 Jan 1;16(4):1364-87. doi: 10.2741/3794. PMID: 21196237

Clinical prediction guides

Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.
Jing J, Zhang C, Du S, Tan X, Yue X, Qiao D
Cardiovasc Pathol 2024 May-Jun;70:107630. Epub 2024 Mar 14 doi: 10.1016/j.carpath.2024.107630. PMID: 38490313
Functional and molecular studies in primary carnitine deficiency.
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
Carnitine in metabolic disease: potential for pharmacological intervention.
Arduini A, Bonomini M, Savica V, Amato A, Zammit V
Pharmacol Ther 2008 Nov;120(2):149-56. Epub 2008 Aug 31 doi: 10.1016/j.pharmthera.2008.08.008. PMID: 18793670
Carnitine and lipid profile in uremia.
Savica V, Bellinghieri G
Clin Ter 1997 May-Jun;148(5-6):229-36. PMID: 9377858
Metabolic myopathies.
Wortmann RL
Curr Opin Rheumatol 1991 Dec;3(6):925-33. doi: 10.1097/00002281-199112000-00005. PMID: 1772746

Recent systematic reviews

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.
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
Carnitine supplements for people with chronic kidney disease requiring dialysis.
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
Sex differences in side effects of antiseizure medications in pediatric patients with epilepsy: A systematic review.
Giuliano L, Vecchio C, Mastrangelo V, Durante V, Zambrelli E, Cantalupo G, La Neve A, Ermio C, Mostacci B; Epilepsy and Gender Commission of the LICE (Italian chapter of the ILAE)
Seizure 2022 Nov;102:6-13. Epub 2022 Sep 17 doi: 10.1016/j.seizure.2022.09.013. PMID: 36156391
Efficacy and Effectiveness of Carnitine Supplementation for Cancer-Related Fatigue: A Systematic Literature Review and Meta-Analysis.
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
Carnitine supplementation for inborn errors of metabolism.
Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2012 Feb 15;2012(2):CD006659. doi: 10.1002/14651858.CD006659.pub3. PMID: 22336821Free PMC Article

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