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Decreased plasma total carnitine

MedGen UID:
868714
Concept ID:
C4023117
Finding
HPO: HP:0011936

Definition

A decreased concentration of total carnitine in the blood. [from HPO]

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.

Professional guidelines

PubMed

Van Wouwe JP
Int J Vitam Nutr Res 1995;65(3):211-4. PMID: 8830002

Recent clinical studies

Etiology

Tate BN, Van Guilder GP, Aly M, Spence LA, Diaz-Rubio ME, Le HH, Johnson EL, McFadden JW, Perry CA
Nutrients 2023 Aug 23;15(17) doi: 10.3390/nu15173687. PMID: 37686719Free PMC Article
Ancel P, Martin JC, Doukbi E, Houssays M, Gascon P, Righini M, Matonti F, Svilar L, Valmori M, Tardivel C, Venteclef N, Julla JB, Gautier JF, Resseguier N, Dutour A, Gaborit B
Int J Mol Sci 2023 Jul 27;24(15) doi: 10.3390/ijms241512053. PMID: 37569425Free PMC Article
Zhang Z, Li L, Zhang C, Zhang P, Fang Z, Li J, Wang S
Exp Eye Res 2023 Feb;227:109366. Epub 2022 Dec 31 doi: 10.1016/j.exer.2022.109366. PMID: 36592680
Kępka A, Zwierz P, Chojnowska S, Ochocińska A, Skorupa E, Szczepański M, Szajda SD, Waszkiewicz N
Alcohol 2019 Dec;81:62-69. Epub 2019 Apr 25 doi: 10.1016/j.alcohol.2019.04.004. PMID: 31029632
Buchta R, Nyhan WL, Broock R, Schragg P
J Adolesc Health 1993 Sep;14(6):440-1. doi: 10.1016/1054-139x(93)90114-5. PMID: 8241199

Diagnosis

Faverzani JL, Guerreiro G, Hammerschmidt TG, Lopes FF, Coelho DM, Sitta A, Mescka CP, Deon M, Wajner M, Vargas CR
Arch Biochem Biophys 2023 Nov;749:109792. Epub 2023 Oct 18 doi: 10.1016/j.abb.2023.109792. PMID: 37863349
Zhang Z, Li L, Zhang C, Zhang P, Fang Z, Li J, Wang S
Exp Eye Res 2023 Feb;227:109366. Epub 2022 Dec 31 doi: 10.1016/j.exer.2022.109366. PMID: 36592680
Jamilian M, Foroozanfard F, Kavossian E, Kia M, Aghadavod E, Amirani E, Asemi Z
Biol Trace Elem Res 2020 Feb;193(2):334-341. Epub 2019 Apr 11 doi: 10.1007/s12011-019-01720-8. PMID: 30977089
Hooke MC, McCarthy K, Taylor O, Hockenberry MJ
Eur J Oncol Nurs 2015 Feb;19(1):7-12. Epub 2014 Sep 30 doi: 10.1016/j.ejon.2014.07.015. PMID: 25260954
Hockenberry MJ, Hooke MC, Gregurich M, McCarthy K
J Pediatr Hematol Oncol 2009 Sep;31(9):664-9. doi: 10.1097/MPH.0b013e3181b259a7. PMID: 19707160

Therapy

Tate BN, Van Guilder GP, Aly M, Spence LA, Diaz-Rubio ME, Le HH, Johnson EL, McFadden JW, Perry CA
Nutrients 2023 Aug 23;15(17) doi: 10.3390/nu15173687. PMID: 37686719Free PMC Article
Xiong X, Zhou J, Fu Q, Xu X, Wei S, Yang S, Chen B
Lipids Health Dis 2022 Jul 21;21(1):60. doi: 10.1186/s12944-022-01673-3. PMID: 35864500Free PMC Article
Hooke MC, McCarthy K, Taylor O, Hockenberry MJ
Eur J Oncol Nurs 2015 Feb;19(1):7-12. Epub 2014 Sep 30 doi: 10.1016/j.ejon.2014.07.015. PMID: 25260954
Szefel J, Kruszewski WJ, Ciesielski M, Szajewski M, Kawecki K, Aleksandrowicz-Wrona E, Jankun J, Lysiak-Szydłowska W
Oncol Rep 2012 Jul;28(1):319-23. Epub 2012 May 4 doi: 10.3892/or.2012.1804. PMID: 22562434
Schmidt-Sommerfeld E, Penn D
Biol Neonate 1990;58 Suppl 1:81-8. doi: 10.1159/000243302. PMID: 2124931

Prognosis

Zhang Z, Li L, Zhang C, Zhang P, Fang Z, Li J, Wang S
Exp Eye Res 2023 Feb;227:109366. Epub 2022 Dec 31 doi: 10.1016/j.exer.2022.109366. PMID: 36592680
Yan Y, Smith E, Melander O, Ottosson F
J Intern Med 2022 Nov;292(5):804-815. Epub 2022 Jul 26 doi: 10.1111/joim.13540. PMID: 35796403Free PMC Article
Guo F, Dai Q, Zeng X, Liu Y, Tan Z, Zhang H, Ouyang D
Int Urol Nephrol 2021 Mar;53(3):539-551. Epub 2020 Sep 18 doi: 10.1007/s11255-020-02632-6. PMID: 32945995
Hockenberry MJ, Hooke MC, Gregurich M, McCarthy K
J Pediatr Hematol Oncol 2009 Sep;31(9):664-9. doi: 10.1097/MPH.0b013e3181b259a7. PMID: 19707160
Cederblad G, Fåhraeus L, Lindgren K
Am J Clin Nutr 1986 Sep;44(3):379-83. doi: 10.1093/ajcn/44.3.379. PMID: 3751959

Clinical prediction guides

Tate BN, Van Guilder GP, Aly M, Spence LA, Diaz-Rubio ME, Le HH, Johnson EL, McFadden JW, Perry CA
Nutrients 2023 Aug 23;15(17) doi: 10.3390/nu15173687. PMID: 37686719Free PMC Article
Cakmak A, Nemutlu E, Yabanoglu-Ciftci S, Baysal I, Kocaaga E, Coplu L, Inal-Ince D
Heart Lung 2023 May-Jun;59:52-60. Epub 2023 Jan 30 doi: 10.1016/j.hrtlng.2023.01.011. PMID: 36724589
Zhang Z, Li L, Zhang C, Zhang P, Fang Z, Li J, Wang S
Exp Eye Res 2023 Feb;227:109366. Epub 2022 Dec 31 doi: 10.1016/j.exer.2022.109366. PMID: 36592680
Yan Y, Smith E, Melander O, Ottosson F
J Intern Med 2022 Nov;292(5):804-815. Epub 2022 Jul 26 doi: 10.1111/joim.13540. PMID: 35796403Free PMC Article
Guo F, Dai Q, Zeng X, Liu Y, Tan Z, Zhang H, Ouyang D
Int Urol Nephrol 2021 Mar;53(3):539-551. Epub 2020 Sep 18 doi: 10.1007/s11255-020-02632-6. PMID: 32945995

Recent systematic reviews

Hurot JM, Cucherat M, Haugh M, Fouque D
J Am Soc Nephrol 2002 Mar;13(3):708-714. doi: 10.1681/ASN.V133708. PMID: 11856775

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