메뉴 건너뛰기




Volumn 10, Issue 2, 2008, Pages 151-156

Acylcarnitine profile analysis

Author keywords

Acylcarnitine profile; Clinical genetic testing; Inborn errors of metabolism; Tandem mass spectrometry; Technical standards and guidelines

Indexed keywords

ACYLCARNITINE;

EID: 39449083613     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181614289     Document Type: Review
Times cited : (190)

References (30)
  • 1
    • 12844287541 scopus 로고    scopus 로고
    • Inborn errors of amino acid, organic acid, and fatty acid metabolism
    • Burtis CA, Ashwood ER, Bruns DE, editors, 4th ed. Philadelphia: WB Saunders
    • Rinaldo P, Hahn SH, Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE, editors. Tietz textbook of clinical chemistry and molecular diagnostics, 4th ed. Philadelphia: WB Saunders, 2005:2207-2247.
    • (2005) Tietz textbook of clinical chemistry and molecular diagnostics , pp. 2207-2247
    • Rinaldo, P.1    Hahn, S.H.2    Matern, D.3
  • 3
    • 33744802933 scopus 로고    scopus 로고
    • Naming and counting disorders (conditions) included in newborn screening panels
    • Sweetman L, Millington DS, Therrell BL, Hannon WH, et al. Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics 2006;17(5 Pt 2):S308-S314.
    • (2006) Pediatrics , vol.17 , Issue.5 PART 2
    • Sweetman, L.1    Millington, D.S.2    Therrell, B.L.3    Hannon, W.H.4
  • 4
    • 0035241692 scopus 로고    scopus 로고
    • Mass spectrometry in the clinical laboratory
    • Chace DH. Mass spectrometry in the clinical laboratory. Chem Rev 2001;101:445-477.
    • (2001) Chem Rev , vol.101 , pp. 445-477
    • Chace, D.H.1
  • 5
    • 0345930501 scopus 로고    scopus 로고
    • Tandem mass spectrometry in clinical diagnosis
    • Blau N, Duran M, Blaskovics ME, Gibson KM, editors, 2nd ed. Berlin: Springer
    • Millington DS. Tandem mass spectrometry in clinical diagnosis. In: Blau N, Duran M, Blaskovics ME, Gibson KM, editors. Physician's guide to the laboratory diagnosis of metabolic diseases, 2nd ed. Berlin: Springer, 2003:57-75.
    • (2003) Physician's guide to the laboratory diagnosis of metabolic diseases , pp. 57-75
    • Millington, D.S.1
  • 6
    • 14844292112 scopus 로고    scopus 로고
    • A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
    • Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem 2005;38:296-309.
    • (2005) Clin Biochem , vol.38 , pp. 296-309
    • Chace, D.H.1    Kalas, T.A.2
  • 7
    • 0036197207 scopus 로고    scopus 로고
    • Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:16.1-26.
    • Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:16.1-26.
  • 8
    • 17844383379 scopus 로고    scopus 로고
    • Inherited abnormalities in mitochondrial fatty acid oxidation
    • Walker WA, Goulet OJ, Kleinman RE, Sanderson IR, et al, editors, 4th ed. Hamilton, Ontario: BC Decker
    • Cuthbert CD, Tortorelli S, Ensenauer R, Rinaldo P, Matern D. Inherited abnormalities in mitochondrial fatty acid oxidation. In: Walker WA, Goulet OJ, Kleinman RE, Sanderson IR, et al, editors. Walker's pediatric gastrointestinal disease, 4th ed. Hamilton, Ontario: BC Decker, 2004:1287-1304.
    • (2004) Walker's pediatric gastrointestinal disease , pp. 1287-1304
    • Cuthbert, C.D.1    Tortorelli, S.2    Ensenauer, R.3    Rinaldo, P.4    Matern, D.5
  • 9
    • 21244473058 scopus 로고    scopus 로고
    • Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults
    • Olpin SE. Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults. Clin Lab 2005;51:289-306.
    • (2005) Clin Lab , vol.51 , pp. 289-306
    • Olpin, S.E.1
  • 12
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system [main report]
    • Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, et al. Newborn screening: Toward a uniform screening panel and system [main report]. Genet Med 2006;8(Suppl):12S-252S.
    • (2006) Genet Med , vol.8 , Issue.SUPPL.
    • Watson, M.S.1    Lloyd-Puryear, M.A.2    Mann, M.Y.3    Rinaldo, P.4
  • 13
    • 0037730098 scopus 로고    scopus 로고
    • 2-Methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
    • Ofman R, Ruiter JP, Feenstra M, Duran M, et al. 2-Methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 2003;72:1300 -1307.
    • (2003) Am J Hum Genet , vol.72 , pp. 1300-1307
    • Ofman, R.1    Ruiter, J.P.2    Feenstra, M.3    Duran, M.4
  • 14
    • 12844261741 scopus 로고    scopus 로고
    • The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I
    • Tortorelli S, Hahn SH, Cowan TM, Brewster TG et al. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab 2005;84:137-143.
    • (2005) Mol Genet Metab , vol.84 , pp. 137-143
    • Tortorelli, S.1    Hahn, S.H.2    Cowan, T.M.3    Brewster, T.G.4
  • 15
    • 33847081531 scopus 로고    scopus 로고
    • Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
    • Oglesbee D, He M, Majumder N, Vockley J, et al. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 2007;9:108-116.
    • (2007) Genet Med , vol.9 , pp. 108-116
    • Oglesbee, D.1    He, M.2    Majumder, N.3    Vockley, J.4
  • 16
    • 0033956203 scopus 로고    scopus 로고
    • Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders
    • Shen JJ, Matern D, Millington DS, Hillman S, et al. Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inherit Metab Dis 2000;23:27-44.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 27-44
    • Shen, J.J.1    Matern, D.2    Millington, D.S.3    Hillman, S.4
  • 17
    • 29344463846 scopus 로고    scopus 로고
    • Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
    • Roe DS, Yang BZ, Vianey-Saban C, Struys E, et al. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab 2006;87:40-47.
    • (2006) Mol Genet Metab , vol.87 , pp. 40-47
    • Roe, D.S.1    Yang, B.Z.2    Vianey-Saban, C.3    Struys, E.4
  • 18
    • 17144368393 scopus 로고    scopus 로고
    • Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse
    • van Vlies N, Tian L, Overmars H, Bootsma AH, et al. Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse. Biochem J 2005;387:185-193.
    • (2005) Biochem J , vol.387 , pp. 185-193
    • van Vlies, N.1    Tian, L.2    Overmars, H.3    Bootsma, A.H.4
  • 19
    • 0034956576 scopus 로고    scopus 로고
    • Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
    • Chace DH, DiPerna JC, Mitchell BL, Sgroi B, et al. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001;47:1166-1182.
    • (2001) Clin Chem , vol.47 , pp. 1166-1182
    • Chace, D.H.1    DiPerna, J.C.2    Mitchell, B.L.3    Sgroi, B.4
  • 20
    • 0029090038 scopus 로고
    • Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile
    • Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, et al. Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 1995;41:1109-1114.
    • (1995) Clin Chem , vol.41 , pp. 1109-1114
    • Rashed, M.S.1    Ozand, P.T.2    Bennett, M.J.3    Barnard, J.J.4
  • 21
    • 0035142803 scopus 로고    scopus 로고
    • Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation
    • Rinaldo P, Studinski A, Matern D. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation. Prenat Diagn 2001;21:52-54.
    • (2001) Prenat Diagn , vol.21 , pp. 52-54
    • Rinaldo, P.1    Studinski, A.2    Matern, D.3
  • 22
    • 32944481866 scopus 로고    scopus 로고
    • Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening
    • Malvagia S, La Marca G, Casetta B, Gasperini S, et al. Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. J Mass Spectrom 2006;41:263-265.
    • (2006) J Mass Spectrom , vol.41 , pp. 263-265
    • Malvagia, S.1    La Marca, G.2    Casetta, B.3    Gasperini, S.4
  • 24
    • 39449121669 scopus 로고    scopus 로고
    • CAP/ACMG Biochemical and Molecular Genetics Resource Committee, Available at
    • CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Committees and leadership. Available at: http://www.cap.org/
    • Committees and leadership
  • 25
  • 26
    • 0031752221 scopus 로고    scopus 로고
    • Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
    • Abdenur JE, Chamoles NA, Guinle AE, Schenone AB et al. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 1998;21:624-630.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 624-630
    • Abdenur, J.E.1    Chamoles, N.A.2    Guinle, A.E.3    Schenone, A.B.4
  • 27
    • 39449106375 scopus 로고    scopus 로고
    • Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1-OH) using butyl esters
    • Vianey-Saban C, Boyer S, Levrat V, Cheillan D, et al. Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1-OH) using butyl esters. J Inherit Metab Dis 2004;27(Suppl 1):94.
    • (2004) J Inherit Metab Dis , vol.27 , Issue.SUPPL. 1 , pp. 94
    • Vianey-Saban, C.1    Boyer, S.2    Levrat, V.3    Cheillan, D.4
  • 28
    • 77956481841 scopus 로고    scopus 로고
    • Dextrose - an artifact detectable by newborn screening as a butylated acylcarnitine
    • Magera MJ, Hahn S, Tortorelli S, Rinaldo P, Matern D. Dextrose - an artifact detectable by newborn screening as a butylated acylcarnitine. J Inherit Metab Dis 2005;28(Suppl 1):1.
    • (2005) J Inherit Metab Dis , vol.28 , Issue.SUPPL. 1 , pp. 1
    • Magera, M.J.1    Hahn, S.2    Tortorelli, S.3    Rinaldo, P.4    Matern, D.5
  • 29
    • 1842586064 scopus 로고    scopus 로고
    • Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
    • Iacobazzi V, Pasquali M, Singh R, Matern D, et al. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet 2004;126A:150-155.
    • (2004) Am J Med Genet , vol.126 A , pp. 150-155
    • Iacobazzi, V.1    Pasquali, M.2    Singh, R.3    Matern, D.4
  • 30
    • 0842327448 scopus 로고    scopus 로고
    • Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clin Genet Laboratories, 2003
    • Grier RE, Gahl WA, Cowan T, Bernardini I, et al. Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clin Genet Laboratories, 2003. Genet Med 2004;6:66-68.
    • (2004) Genet Med , vol.6 , pp. 66-68
    • Grier, R.E.1    Gahl, W.A.2    Cowan, T.3    Bernardini, I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.