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Volumn 43, Issue 12, 2013, Pages 785-792

Primary carnitine deficiency and cardiomyopathy

Author keywords

Cardiomyopathies; Carnitine deficiency; Primary

Indexed keywords

CARNITINE;

EID: 84892592258     PISSN: 17385520     EISSN: 17385555     Source Type: Journal    
DOI: 10.4070/kcj.2013.43.12.785     Document Type: Review
Times cited : (60)

References (51)
  • 1
    • 33750102125 scopus 로고    scopus 로고
    • Factors associated with establishing a causal diagnosis for children with cardiomyopathy
    • Cox GF, Sleeper LA, Lowe AM, et al. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatries 2006;118:1519-31.
    • (2006) Pediatries , vol.118 , pp. 1519-1531
    • Cox, G.F.1    Sleeper, L.A.2    Lowe, A.M.3
  • 2
    • 35348824321 scopus 로고    scopus 로고
    • Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy
    • DOI 10.1016/j.ppedcard.2007.08.013, PII S1058981307000872, Idiopathic and Primary Cardiomyopathy in Children (Part 2)
    • Cox GF. Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. Prog Pediatr Cardiol 2007;24:15-25. (Pubitemid 47576679)
    • (2007) Progress in Pediatric Cardiology , vol.24 , Issue.1 , pp. 15-25
    • Cox, G.F.1
  • 3
    • 0019830914 scopus 로고
    • Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. A treatable cardiomyopathy
    • Tripp ME, Katcher ML, Peters FIA, et al. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N EngI J Med 1981;305:385-90. (Pubitemid 11063755)
    • (1981) New England Journal of Medicine , vol.305 , Issue.7 , pp. 385-390
    • Tripp, M.E.1    Katcher, M.L.2    Peters, H.A.3
  • 4
    • 0019949555 scopus 로고
    • Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport
    • Waber U, Valle D, Neill C, DiMauro S, Shug A. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr 1982;101:700-5.
    • (1982) J Pediatr , vol.101 , pp. 700-705
    • Waber, U.1    Valle, D.2    Neill, C.3    DiMauro, S.4    Shug, A.5
  • 5
    • 0033954046 scopus 로고    scopus 로고
    • Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children
    • Pierpont ME, Breningstall GN, Stanley CA, Singh A. Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children. Am Heart J 2000;139(2 Pt 3)596-106.
    • (2000) Am Heart J , vol.139 , Issue.2-3 , pp. 596-1106
    • Pierpont, M.E.1    Breningstall, G.N.2    Stanley, C.A.3    Singh, A.4
  • 6
    • 0027049235 scopus 로고
    • Carnitine function and requirements during the life cycle
    • Rebouche CJ. Carnitine function and requirements during the life cycle. FASEB J 1992;6:3379-86. (Pubitemid 23007103)
    • (1992) FASEB Journal , vol.6 , Issue.15 , pp. 3379-3386
    • Rebouche, C.J.1
  • 7
    • 33847213858 scopus 로고    scopus 로고
    • OCTN2-mediated carnitine uptake in a newly discovered human proximal tubule cell line (Caki-1)
    • Glube N, Closs E, Langguth P. OCTN2-mediated carnitine uptake in a newly discovered human proximal tubule cell line (Caki-1). Mol Pharm 2007;4:160-8.
    • (2007) Mol Pharm , vol.4 , pp. 160-168
    • Glube, N.1    Closs, E.2    Langguth, P.3
  • 10
    • 34447260730 scopus 로고    scopus 로고
    • Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
    • Lund AM, Joensen F, Hougaard DM, et al. Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. J Inherit Metab Dis 2007;30:341-9.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 341-349
    • Lund, A.M.1    Joensen, F.2    Hougaard, D.M.3
  • 11
    • 84922481115 scopus 로고    scopus 로고
    • Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
    • [Epub ahead of print]
    • Rasmussen J, Nielsen OW, Janzen N, et al. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. J Inherit Metab Dis 2013. [Epub ahead of print]
    • (2013) J Inherit Metab Dis
    • Rasmussen, J.1    Nielsen, O.W.2    Janzen, N.3
  • 15
    • 0032577202 scopus 로고    scopus 로고
    • CDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family
    • DOI 10.1006/bbrc.1998.8669
    • Wu X, Prasad PD, Leibach FH, Ganapathy V. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Bioehem Biophys Res Commun 1998;246:589-95. (Pubitemid 28420901)
    • (1998) Biochemical and Biophysical Research Communications , vol.246 , Issue.3 , pp. 589-595
    • Wu, X.1    Prasad, P.D.2    Leibach, F.H.3    Ganapathy, V.4
  • 17
    • 84879268118 scopus 로고    scopus 로고
    • Defects in metabolism of lipid
    • Kliegman RM, Behrman RE, Stanton BF, St. Geme J, Schor N, editors 19th ed. Philadelphia: W.B. Saunders Company
    • Stanley CA, Bennett MJ. Defects in metabolism of lipid. In: Kliegman RM, Behrman RE, Stanton BF, St. Geme J, Schor N, editors. Nelson textbook of pediatrics. 19th ed. Philadelphia: W.B. Saunders Company;2011. p.460-1.
    • (2011) Nelson Textbook of Pediatrics , pp. 460-461
    • Stanley, C.A.1    Bennett, M.J.2
  • 18
    • 0031884872 scopus 로고    scopus 로고
    • Carnitine deficiency-induced cardiomyopathy
    • DOI 10.1023/A:1006826620218
    • Paulson DJ. Carnitine deficiency-induced cardiomyopathy. Mol Cell Bioehem 1998;180:33-41. (Pubitemid 28118801)
    • (1998) Molecular and Cellular Biochemistry , vol.180 , Issue.1-2 , pp. 33-41
    • Paulson, D.J.1
  • 19
    • 0019202482 scopus 로고
    • Systemic carnitine deficiency: A treatable inherited lipid-storage disease presenting as Reye's syndrome
    • Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug AL Cederbaum SD. Systemic carnitine deficiency-a treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 1980;303:1389-94. (Pubitemid 11197527)
    • (1980) New England Journal of Medicine , vol.303 , Issue.24 , pp. 1389-1394
    • Chapoy, P.R.1    Angelini, C.2    Brown, W.J.3
  • 20
    • 84892483872 scopus 로고    scopus 로고
    • Primary carnitine deficiency: Novel mutations and insights into the cardiac phenotype
    • [Epub ahead of print]
    • Shibbani K, Fahed A, Al-Shaar L, et al. Primary carnitine deficiency: Novel mutations and insights into the cardiac phenotype. Clin Genet 2013. [Epub ahead of print]
    • (2013) Clin Genet
    • Shibbani, K.1    Fahed, A.2    Al-Shaar, L.3
  • 21
    • 84892563946 scopus 로고    scopus 로고
    • Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency
    • Kilic M, Ozgül RK, Coşkun T, et al. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency. JlMD Rep 2012;3:17-23.
    • (2012) JlMD Rep , vol.3 , pp. 17-23
    • Kilic, M.1    Ozgül, R.K.2    Coşkun, T.3
  • 22
    • 84886548112 scopus 로고    scopus 로고
    • Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy
    • Fu U, Chen SB, Han LS, et al. [Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy], Zhonghua Er Ke Za Zhi 2012;50:929-34.
    • (2012) Zhonghua Er Ke Za Zhi , vol.50 , pp. 929-934
    • Fu, U.1    Chen, S.B.2    Han, L.S.3
  • 23
    • 0025995690 scopus 로고
    • Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
    • Stanley CA, DeLeeuw S, Coates PM, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991;30:709-16.
    • (1991) Ann Neurol , vol.30 , pp. 709-716
    • Stanley, C.A.1    DeLeeuw, S.2    Coates, P.M.3
  • 24
    • 84898775860 scopus 로고    scopus 로고
    • Primary carnitine deficiency in the faroe islands: Health and cardiac status in 76 adult patients diagnosed by screening
    • [Epub ahead of print]
    • Rasmussen J, Kober L Lund AM, Nielsen OW. Primary carnitine deficiency in the faroe islands: Health and cardiac status in 76 adult patients diagnosed by screening. J Inherit Metab Dis 2013. [Epub ahead of print]
    • (2013) J Inherit Metab Dis
    • Rasmussen, J.1    Kober, L.2    Lund, A.M.3    Nielsen, O.W.4
  • 25
    • 77950518841 scopus 로고    scopus 로고
    • Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
    • Lee NC, Tang NL Chien YH, et al. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab 2010;100:46-50.
    • (2010) Mol Genet Metab , vol.100 , pp. 46-50
    • Lee, N.C.1    Tang, N.L.2    Chien, Y.H.3
  • 26
    • 84880492406 scopus 로고    scopus 로고
    • Primary carnitine deficiency presents atypically with long qt syndrome: A case report
    • De Biase I, Champagne NL Schroer R, Pollard LM, Longo N, Wood T. Primary carnitine deficiency presents atypically with long qt syndrome: A case report. JIMD Rep 2012;2:87-90.
    • (2012) JIMD Rep , vol.2 , pp. 87-90
    • De Biase, I.1    Champagne, N.L.2    Schroer, R.3    Pollard, L.M.4    Longo, N.5    Wood, T.6
  • 30
    • 75649118189 scopus 로고    scopus 로고
    • Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
    • El-Hattab AW, Li FY, Shen J, et al. Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects. Genet Med 2010;12:19-24.
    • (2010) Genet Med , vol.12 , pp. 19-24
    • El-Hattab, A.W.1    Li, F.Y.2    Shen, J.3
  • 32
    • 84872603802 scopus 로고    scopus 로고
    • Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events
    • Rasmussen J, Nielsen OW, Lund AM, Kober L Djurhuus H. Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. J Inherit Metab Dis 2013;36:35-41.
    • (2013) J Inherit Metab Dis , vol.36 , pp. 35-41
    • Rasmussen, J.1    Nielsen, O.W.2    Lund, A.M.3    Kober, L.4    Djurhuus, H.5
  • 33
    • 0021926340 scopus 로고
    • Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy
    • Matsuishi T, Hirata K, Terasawa K, et al. Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Neuropediatrics 1985;16:6-12. (Pubitemid 15167474)
    • (1985) Neuropediatrics , vol.16 , Issue.1 , pp. 6-12
    • Matsuishi, T.1    Hirata, K.2    Terasawa, K.3
  • 35
    • 84865295075 scopus 로고    scopus 로고
    • Long-chain acylcarnitines regulate the hERG channel
    • Ferro F, Ouillé A, Tran TA, et al. Long-chain acylcarnitines regulate the hERG channel. PLoS One 2012;7:e41686.
    • (2012) PLoS One , vol.7
    • Ferro, F.1    Ouillé, A.2    Tran, T.A.3
  • 36
    • 0026014260 scopus 로고
    • Primary car-nitine deficiency: Heterozygote and intrafamilial phenotypic variation
    • Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S. Primary car-nitine deficiency: Heterozygote and intrafamilial phenotypic variation. Neurology 1991;41:1691-3.
    • (1991) Neurology , vol.41 , pp. 1691-1693
    • Garavaglia, B.1    Uziel, G.2    Dworzak, F.3    Carrara, F.4    DiDonato, S.5
  • 39
    • 83555162369 scopus 로고    scopus 로고
    • Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation
    • Sarafoglou K, Tridgell AH, Bentler K, Redlinger-Grosse K, Berry SA, Schimmenti LA. Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation. Clin Genet 2010;78:191-4.
    • (2010) Clin Genet , vol.78 , pp. 191-194
    • Sarafoglou, K.1    Tridgell, A.H.2    Bentler, K.3    Redlinger-Grosse, K.4    Berry, S.A.5    Schimmenti, L.A.6
  • 40
    • 0033736393 scopus 로고    scopus 로고
    • Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
    • Wang Y, Taroni F, Garavaglia B, Longo N. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. Hum Mutat 2000; 16:401 -7.
    • (2000) Hum Mutat , vol.16 , pp. 401-407
    • Wang, Y.1    Taroni, F.2    Garavaglia, B.3    Longo, N.4
  • 43
    • 34347343996 scopus 로고    scopus 로고
    • Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: A genotype-phenotype correlation
    • Yamak A, Bitar F, Karam P, Nemer G. Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: A genotype-phenotype correlation.Clin Genet 2007;72:59-62.
    • (2007) Clin Genet , vol.72 , pp. 59-62
    • Yamak, A.1    Bitar, F.2    Karam, P.3    Nemer, G.4
  • 44
    • 84866294498 scopus 로고    scopus 로고
    • Systemic primary carnitine deficiency: An overview of clinical manifestations, diagnosis, and management
    • Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: An overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2012;7:68.
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 68
    • Magoulas, P.L.1    El-Hattab, A.W.2
  • 47
    • 0031813848 scopus 로고    scopus 로고
    • L-carnitine in children with idiopathic dilated cardiomyopathy
    • Kothari SS, Sharma M. L-carnitine in children with idiopathic dilated cardiomyopathy. Indian Heart J 1998;50:59-61. (Pubitemid 28240135)
    • (1998) Indian Heart Journal , vol.50 , Issue.1 , pp. 59-61
    • Kothari, S.S.1    Sharma, M.2
  • 48
    • 0033977067 scopus 로고    scopus 로고
    • Three-year survival of patients with heart failure caused by dilated cardiomyopathy and L-carnitine administration
    • Rizos I. Three-year survival of patients with heart failure caused by dilated cardiomyopathy and L-carnitine administration. Am Heart J2000; 139(2 Pt 3) :S 120-3.
    • (2000) Am Heart J , vol.139 , Issue.2-3
    • Rizos, I.1
  • 49
  • 51


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