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Abnormal concentration of acylcarnitine in the urine

MedGen UID:
1686996
•Concept ID:
C5139564
•
Finding
HPO: HP:0500170

Definition

An abnormal amount of acylcarnitine in the urine. [from HPO]

Professional guidelines

PubMed

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L, Yang N, Zhao J, Yang H, Tang Y, Li L, Kong Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):278-283. doi: 10.3724/zdxbyxb-2022-0214. PMID: 36207829Free PMC Article
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM
J Inherit Metab Dis 2003;26(1):25-35. doi: 10.1023/a:1024015227863. PMID: 12872837

Recent clinical studies

Etiology

Seminal plasma metabolome in relation to semen quality and urinary phthalate metabolites among Chinese adult men.
Wang YX, Wu Y, Chen HG, Duan P, Wang L, Shen HQ, Lu WQ, Sun B, Wang Q, Zhang B, Chavarro JE, Zhang J, Pan A
Environ Int 2019 Aug;129:354-363. Epub 2019 May 28 doi: 10.1016/j.envint.2019.05.043. PMID: 31150977
Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study.
Shrivastava A, Kumar A, Thomas JD, Laserson KF, Bhushan G, Carter MD, Chhabra M, Mittal V, Khare S, Sejvar JJ, Dwivedi M, Isenberg SL, Johnson R, Pirkle JL, Sharer JD, Hall PL, Yadav R, Velayudhan A, Papanna M, Singh P, Somashekar D, Pradhan A, Goel K, Pandey R, Kumar M, Kumar S, Chakrabarti A, Sivaperumal P, Kumar AR, Schier JG, Chang A, Graham LA, Mathews TP, Johnson D, Valentin L, Caldwell KL, Jarrett JM, Harden LA, Takeoka GR, Tong S, Queen K, Paden C, Whitney A, Haberling DL, Singh R, Singh RS, Earhart KC, Dhariwal AC, Chauhan LS, Venkatesh S, Srikantiah P
Lancet Glob Health 2017 Apr;5(4):e458-e466. Epub 2017 Jan 31 doi: 10.1016/S2214-109X(17)30035-9. PMID: 28153514
Plasma and urinary carnitine and acylcarnitines in chronic fatigue syndrome.
Jones MG, Goodwin CS, Amjad S, Chalmers RA
Clin Chim Acta 2005 Oct;360(1-2):173-7. doi: 10.1016/j.cccn.2005.04.029. PMID: 15967423
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
Genet Med 2005 May-Jun;7(5):339-43. doi: 10.1097/01.gim.0000164548.54482.9d. PMID: 15915086
Amniotic fluid propionylcarnitine in methylmalonic aciduria.
Penn D, Schmidt-Sommerfeld E, Jakobs C, Bieber LL
J Inherit Metab Dis 1987;10(4):376-82. doi: 10.1007/BF01799980. PMID: 3126357

Diagnosis

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L, Yang N, Zhao J, Yang H, Tang Y, Li L, Kong Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):278-283. doi: 10.3724/zdxbyxb-2022-0214. PMID: 36207829Free PMC Article
Quantitation of plasma and urine 3-hydroxyglutaric acid, after separation from 2-hydroxyglutaric acid and other compounds of similar ion transition, by liquid chromatography-tandem mass spectrometry for the confirmation of glutaric aciduria type 1.
Simon GA, Wierenga A
J Chromatogr B Analyt Technol Biomed Life Sci 2018 Oct 15;1097-1098:101-110. Epub 2018 Sep 5 doi: 10.1016/j.jchromb.2018.09.007. PMID: 30218917
Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study.
Shrivastava A, Kumar A, Thomas JD, Laserson KF, Bhushan G, Carter MD, Chhabra M, Mittal V, Khare S, Sejvar JJ, Dwivedi M, Isenberg SL, Johnson R, Pirkle JL, Sharer JD, Hall PL, Yadav R, Velayudhan A, Papanna M, Singh P, Somashekar D, Pradhan A, Goel K, Pandey R, Kumar M, Kumar S, Chakrabarti A, Sivaperumal P, Kumar AR, Schier JG, Chang A, Graham LA, Mathews TP, Johnson D, Valentin L, Caldwell KL, Jarrett JM, Harden LA, Takeoka GR, Tong S, Queen K, Paden C, Whitney A, Haberling DL, Singh R, Singh RS, Earhart KC, Dhariwal AC, Chauhan LS, Venkatesh S, Srikantiah P
Lancet Glob Health 2017 Apr;5(4):e458-e466. Epub 2017 Jan 31 doi: 10.1016/S2214-109X(17)30035-9. PMID: 28153514
Acylcarnitine analysis by tandem mass spectrometry.
Smith EH, Matern D
Curr Protoc Hum Genet 2010 Jan;Chapter 17:Unit 17.8.1-20. doi: 10.1002/0471142905.hg1708s64. PMID: 20063265
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry.
Pitt JJ, Eggington M, Kahler SG
Clin Chem 2002 Nov;48(11):1970-80. PMID: 12406983

Therapy

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F
Arch Neurol 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. PMID: 15710863
Cytotoxic aldehydes as possible markers for childhood cancer.
Yazdanpanah M, Luo X, Lau R, Greenberg M, Fisher LJ, Lehotay DC
Free Radic Biol Med 1997;23(6):870-8. doi: 10.1016/s0891-5849(97)00070-1. PMID: 9378366
Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.
Duran M, de Klerk JB, Wadman SK, Scholte HR, Beekman RP, Jennekens FG
Eur J Pediatr 1984 Aug;142(3):224-8. doi: 10.1007/BF00442456. PMID: 6468448

Prognosis

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L, Yang N, Zhao J, Yang H, Tang Y, Li L, Kong Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):278-283. doi: 10.3724/zdxbyxb-2022-0214. PMID: 36207829Free PMC Article

Clinical prediction guides

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L, Yang N, Zhao J, Yang H, Tang Y, Li L, Kong Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):278-283. doi: 10.3724/zdxbyxb-2022-0214. PMID: 36207829Free PMC Article
Seminal plasma metabolome in relation to semen quality and urinary phthalate metabolites among Chinese adult men.
Wang YX, Wu Y, Chen HG, Duan P, Wang L, Shen HQ, Lu WQ, Sun B, Wang Q, Zhang B, Chavarro JE, Zhang J, Pan A
Environ Int 2019 Aug;129:354-363. Epub 2019 May 28 doi: 10.1016/j.envint.2019.05.043. PMID: 31150977
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM
EMBO Mol Med 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356. PMID: 27856618Free PMC Article
Plasma and urinary carnitine and acylcarnitines in chronic fatigue syndrome.
Jones MG, Goodwin CS, Amjad S, Chalmers RA
Clin Chim Acta 2005 Oct;360(1-2):173-7. doi: 10.1016/j.cccn.2005.04.029. PMID: 15967423
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F
Arch Neurol 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. PMID: 15710863

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