메뉴 건너뛰기




Volumn 354, Issue 1-2, 2005, Pages 167-180

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: A three-year report

Author keywords

Inborn metabolic disorders; Newborn screening; Prevalence; South Korea; Tandem mass spectrometry

Indexed keywords

AMINO ACID METABOLISM; ARTICLE; BIRTH; BLOOD ANALYSIS; CONTROLLED STUDY; EXTRACTION; FATTY ACID METABOLISM; HIGH RISK POPULATION; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PERINATAL PERIOD; PREDICTION; PREVALENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SOUTH KOREA; TANDEM MASS SPECTROMETRY;

EID: 20044380339     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2004.11.032     Document Type: Article
Times cited : (72)

References (40)
  • 1
    • 0344081182 scopus 로고    scopus 로고
    • Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    • S.E. Waisbren, S. Albers, S. Amato, M. Ampola, T.G. Brewster, and L. Demmer Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress JAMA 290 19 2003 2564 2572
    • (2003) JAMA , vol.290 , Issue.19 , pp. 2564-2572
    • Waisbren, S.E.1    Albers, S.2    Amato, S.3    Ampola, M.4    Brewster, T.G.5    Demmer, L.6
  • 2
    • 0011240438 scopus 로고    scopus 로고
    • Using tandem mass spectrometry for metabolic disease screening among newborns. a report of a work group
    • US Department of Health and Human Services Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group Morb. Mortal. Wkly. Rep. Recomm. Rep. 50 RR-3 2001 2 34
    • (2001) Morb. Mortal. Wkly. Rep. Recomm. Rep. , vol.50 , Issue.RR-3 , pp. 2-34
    • Department Of Health, U.S.1    Services, H.2
  • 3
    • 0038757594 scopus 로고    scopus 로고
    • Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
    • D. Matern, M. He, S.A. Berry, P. Rinaldo, C.B. Whitley, and P.P. Madsen Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry Pediatrics 112 2003 74 78
    • (2003) Pediatrics , vol.112 , pp. 74-78
    • Matern, D.1    He, M.2    Berry, S.A.3    Rinaldo, P.4    Whitley, C.B.5    Madsen, P.P.6
  • 4
    • 0037930740 scopus 로고    scopus 로고
    • ESI-MS/MS analysis of underivatised amino acids: A new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode
    • M. Piraud, C. Vianey-Saban, K. Petritis, C. Elfakir, J.P. Steghens, and A. Morla ESI-MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode Rapid Commun. Mass Spectrom. 17 12 2003 1297 1311
    • (2003) Rapid Commun. Mass Spectrom. , vol.17 , Issue.12 , pp. 1297-1311
    • Piraud, M.1    Vianey-Saban, C.2    Petritis, K.3    Elfakir, C.4    Steghens, J.P.5    Morla, A.6
  • 5
    • 0037685217 scopus 로고    scopus 로고
    • Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    • B. Wilcken, V. Wiley, J. Hammond, and K. Carpenter Screening newborns for inborn errors of metabolism by tandem mass spectrometry N. Engl. J. Med. 348 23 2003 2304 2312
    • (2003) N. Engl. J. Med. , vol.348 , Issue.23 , pp. 2304-2312
    • Wilcken, B.1    Wiley, V.2    Hammond, J.3    Carpenter, K.4
  • 6
    • 0038042122 scopus 로고    scopus 로고
    • Newborn screening: An overview
    • E. Carreiro-Lewandowski Newborn screening: an overview Clin. Lab. Sci. 15 4 2002 229 238
    • (2002) Clin. Lab. Sci. , vol.15 , Issue.4 , pp. 229-238
    • Carreiro-Lewandowski, E.1
  • 7
    • 0038373881 scopus 로고    scopus 로고
    • Direct tandem mass spectrometric analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening
    • K. Nagy, Z. Takats, F. Pollreisz, T. Szabo, and K. Vekey Direct tandem mass spectrometric analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening Rapid Commun. Mass Spectrom. 17 9 2003 983 990
    • (2003) Rapid Commun. Mass Spectrom. , vol.17 , Issue.9 , pp. 983-990
    • Nagy, K.1    Takats, Z.2    Pollreisz, F.3    Szabo, T.4    Vekey, K.5
  • 8
    • 0034775820 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program
    • T.H. Zytkovicz, E.F. Fitzgerald, D. Marsden, C.A. Larson, V.E. Shih, and D.M. Johnson Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program Clin. Chem. 47 11 2001 1945 1955
    • (2001) Clin. Chem. , vol.47 , Issue.11 , pp. 1945-1955
    • Zytkovicz, T.H.1    Fitzgerald, E.F.2    Marsden, D.3    Larson, C.A.4    Shih, V.E.5    Johnson, D.M.6
  • 9
    • 0001222859 scopus 로고
    • The analysis of diagnostic markers of genetic disorders in hyman blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry
    • D.S. Millington, N. Kodo, N. Terada, D. Roe, and D.H. Chace The analysis of diagnostic markers of genetic disorders in hyman blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry Int. J. Mass Spectrom. Ion Process. 111 1991 211 228
    • (1991) Int. J. Mass Spectrom. Ion Process. , vol.111 , pp. 211-228
    • Millington, D.S.1    Kodo, N.2    Terada, N.3    Roe, D.4    Chace, D.H.5
  • 10
    • 0030751763 scopus 로고    scopus 로고
    • Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
    • M.S. Rashed, M.P. Bucknall, D. Little, A. Awad, M. Jacob, and M. Alamoudi Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles Clin. Chem. 43 1997 1129 1141
    • (1997) Clin. Chem. , vol.43 , pp. 1129-1141
    • Rashed, M.S.1    Bucknall, M.P.2    Little, D.3    Awad, A.4    Jacob, M.5    Alamoudi, M.6
  • 11
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by acylcanitines and amino acid profiling using automated electrospray tandem mass spectrometry
    • M.S. Rashed, P.T. Ozand, M.P. Bucknall, and D. Little Diagnosis of inborn errors of metabolism from blood spots by acylcanitines and amino acid profiling using automated electrospray tandem mass spectrometry Pediatr. Res. 38 1995 324 331
    • (1995) Pediatr. Res. , vol.38 , pp. 324-331
    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
  • 12
    • 0029816383 scopus 로고    scopus 로고
    • Use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots
    • A.W. Johnson, K. Mills, and P.T. Clayton Use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots Biochem. Soc. Trans. 24 1996 932 938
    • (1996) Biochem. Soc. Trans. , vol.24 , pp. 932-938
    • Johnson, A.W.1    Mills, K.2    Clayton, P.T.3
  • 13
    • 0033430257 scopus 로고    scopus 로고
    • Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: A model for clinical mass spectrometry in the next millennium
    • D.H. Chace, J.C. DiPerna, and E.W. Naylor Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium Acta Paediatr. Suppl. 88 432 1999 45 47
    • (1999) Acta Paediatr. Suppl. , vol.88 , Issue.432 , pp. 45-47
    • Chace, D.H.1    Diperna, J.C.2    Naylor, E.W.3
  • 14
    • 0032706073 scopus 로고    scopus 로고
    • Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism
    • E.W. Naylor, and D.H. Chace Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism J. Child Neurol. 14 Suppl. 1 1999 S4 S8
    • (1999) J. Child Neurol. , vol.14 , Issue.SUPPL. 1
    • Naylor, E.W.1    Chace, D.H.2
  • 15
    • 0242300682 scopus 로고    scopus 로고
    • Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: A cost-effectiveness analysis
    • L.N. Venditti, C.P. Venditti, G.T. Berry, P.B. Kaplan, E.M. Kaye, and H. Glick Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis Pediatrics 112 5 2003 1005 1015
    • (2003) Pediatrics , vol.112 , Issue.5 , pp. 1005-1015
    • Venditti, L.N.1    Venditti, C.P.2    Berry, G.T.3    Kaplan, P.B.4    Kaye, E.M.5    Glick, H.6
  • 16
    • 0037778718 scopus 로고    scopus 로고
    • Contribution of selected metabolic diseases to early childhood deaths-Virginia, 1996-2001
    • Centers for Disease Control and Prevention (CDC) Contribution of selected metabolic diseases to early childhood deaths-Virginia, 1996-2001 MMWR Morb. Mortal. Wkly. Rep. 52 29 2003 677 679
    • (2003) MMWR Morb. Mortal. Wkly. Rep. , vol.52 , Issue.29 , pp. 677-679
  • 17
    • 0037639877 scopus 로고    scopus 로고
    • Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications
    • A. Schulze, M. Lindner, D. Kohlmuller, K. Olgemoller, E. Mayatepek, and G.F. Hoffmann Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications Pediatrics 111 2003 1399 1406
    • (2003) Pediatrics , vol.111 , pp. 1399-1406
    • Schulze, A.1    Lindner, M.2    Kohlmuller, D.3    Olgemoller, K.4    Mayatepek, E.5    Hoffmann, G.F.6
  • 18
    • 0034794064 scopus 로고    scopus 로고
    • U.S. Newborn Screening Policy Dilemmas for the 21st century
    • B. Therrrell U.S. Newborn Screening Policy Dilemmas for the 21st century Mol. Genet. Metab. 74 2001 64 74
    • (2001) Mol. Genet. Metab. , vol.74 , pp. 64-74
    • Therrrell, B.1
  • 19
    • 0036799518 scopus 로고    scopus 로고
    • Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin Newborn Screening Panel
    • R.P. Insinga, R.H. Laessig, and G.L. Hoffman Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel J. Pediatr. 141 4 2002 524 531 [Erratum in: J. Pediatr. 142(1) (2003) 56]
    • (2002) J. Pediatr. , vol.141 , Issue.4 , pp. 524-531
    • Insinga, R.P.1    Laessig, R.H.2    Hoffman, G.L.3
  • 20
    • 0031013581 scopus 로고    scopus 로고
    • A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: Clinical and evolutionary consideration
    • K. Tanaka, N. Gregersen, A. Ribes, J. Kim, S. Kolvraa, and V. Winter A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration Pediatr. Res. 41 2 1997 201 209
    • (1997) Pediatr. Res. , vol.41 , Issue.2 , pp. 201-209
    • Tanaka, K.1    Gregersen, N.2    Ribes, A.3    Kim, J.4    Kolvraa, S.5    Winter, V.6
  • 22
    • 14644430491 scopus 로고    scopus 로고
    • Past, present and future perspective of newborn mass screening in Korea
    • D.H. Lee Past, present and future perspective of newborn mass screening in Korea J. Kor. Soc. Inherit. Metab. Dis. 4 1 2004 82 92
    • (2004) J. Kor. Soc. Inherit. Metab. Dis. , vol.4 , Issue.1 , pp. 82-92
    • Lee, D.H.1
  • 23
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • R. Guthrie, and A. Susi A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 32 1963 338 343
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 24
    • 0037057759 scopus 로고    scopus 로고
    • A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: Diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
    • J.G. Okun, S. Kolker, A. Schulze, D. Kohlmuller, K. Olgemoller, and M. Lindner A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency Biochim. Biophys. Acta 1584 2-3 2002 91 98
    • (2002) Biochim. Biophys. Acta , vol.1584 , Issue.2-3 , pp. 91-98
    • Okun, J.G.1    Kolker, S.2    Schulze, A.3    Kohlmuller, D.4    Olgemoller, K.5    Lindner, M.6
  • 25
    • 0036389795 scopus 로고    scopus 로고
    • Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: Phenotype/metabolite correlations
    • K. Giak Sim, K. Carpenter, J. Hammond, J. Christodoulou, and B. Wilcken Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations Mol. Genet. Metab. 76 4 2002 327 334
    • (2002) Mol. Genet. Metab. , vol.76 , Issue.4 , pp. 327-334
    • Giak Sim, K.1    Carpenter, K.2    Hammond, J.3    Christodoulou, J.4    Wilcken, B.5
  • 26
    • 0033001744 scopus 로고    scopus 로고
    • Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
    • P. Vreken, A.E. van Lin, A.H. Bootsma, H. Overmars, R.J. Wanders, and A.H. van Gennip Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects J. Inherit. Metab. Dis. 22 1999 302 306
    • (1999) J. Inherit. Metab. Dis. , vol.22 , pp. 302-306
    • Vreken, P.1    Van Lin, A.E.2    Bootsma, A.H.3    Overmars, H.4    Wanders, R.J.5    Van Gennip, A.H.6
  • 27
    • 0034467745 scopus 로고    scopus 로고
    • Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma
    • P. Vreken, A.E. van Lint, A.H. Bootsma, H. Overmars, R.J. Wanders, and A.H. van Gennip Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma Adv. Exp. Med. Biol. 466 1999 327 337
    • (1999) Adv. Exp. Med. Biol. , vol.466 , pp. 327-337
    • Vreken, P.1    Van Lint, A.E.2    Bootsma, A.H.3    Overmars, H.4    Wanders, R.J.5    Van Gennip, A.H.6
  • 28
    • 0030664016 scopus 로고    scopus 로고
    • Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcanitines in newborn blood spots by tandem mass spectrometry
    • D.H. Chace, S.L. Hillmal, J.L.K. Van Hove, and E.W. Naylor Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcanitines in newborn blood spots by tandem mass spectrometry Clin. Chem. 43 1997 2106 2113
    • (1997) Clin. Chem. , vol.43 , pp. 2106-2113
    • Chace, D.H.1    Hillmal, S.L.2    Van Hove, J.L.K.3    Naylor, E.W.4
  • 29
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • D.S. Millington, N. Kodo, D.L. Norwood, and C.R. Roe Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism J. Inherit. Metab. Dis. 13 3 1990 321 324
    • (1990) J. Inherit. Metab. Dis. , vol.13 , Issue.3 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 34
    • 14644443687 scopus 로고    scopus 로고
    • A Korean family with LCHAD deficiency presenting neonatal lactic academia; Identification of a novel mutation in the HADHA gene. IX International Congress on Inborn Errors of Metabolism
    • H.W. Yoo, G.W. Kim, and H.R. Yoon A Korean family with LCHAD deficiency presenting neonatal lactic academia; identification of a novel mutation in the HADHA gene. IX International Congress on Inborn Errors of Metabolism J. Inherit. Metab. Dis. 26 2 2003 98
    • (2003) J. Inherit. Metab. Dis. , vol.26 , Issue.2 , pp. 98
    • Yoo, H.W.1    Kim, G.W.2    Yoon, H.R.3
  • 35
    • 0042420659 scopus 로고    scopus 로고
    • A case of mitochodrial trifunctional protein deficiency diagnosed by acylcarnitine profiles and DNA analysis in a dried blood spot of a 4-day-old boy
    • J.-E. Lee, H.-R. Yoon, K.-H. Paik, S.-J. Hwang, J.-W. Shim, and Y.-S. Chang A case of mitochodrial trifunctional protein deficiency diagnosed by acylcarnitine profiles and DNA analysis in a dried blood spot of a 4-day-old boy J. Inherit. Metab. Dis. 26 2003 403 406
    • (2003) J. Inherit. Metab. Dis. , vol.26 , pp. 403-406
    • Lee, J.-E.1    Yoon, H.-R.2    Paik, K.-H.3    Hwang, S.-J.4    Shim, J.-W.5    Chang, Y.-S.6
  • 36
    • 0034917014 scopus 로고    scopus 로고
    • Sudden death in a Korean infant with very long chain Acyl-CoA dehydrogenase deficiency
    • H.-R. Yoon, A.W. Strauss, and H.W. Yoo Sudden death in a Korean infant with very long chain Acyl-CoA dehydrogenase deficiency J. Inherit. Metab. Dis. 24 3 2001 407 478
    • (2001) J. Inherit. Metab. Dis. , vol.24 , Issue.3 , pp. 407-478
    • Yoon, H.-R.1    Strauss, A.W.2    Yoo, H.W.3
  • 37
    • 0035089930 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations
    • J.A. Ibdah, Y. Zhao, J. Viola, B. Gibson, M.J. Bennett, and A.W. Strauss Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations J. Pediatr. 138 3 2001 396 399
    • (2001) J. Pediatr. , vol.138 , Issue.3 , pp. 396-399
    • Ibdah, J.A.1    Zhao, Y.2    Viola, J.3    Gibson, B.4    Bennett, M.J.5    Strauss, A.W.6
  • 38
    • 0032845048 scopus 로고    scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia
    • J.A. Ibdah, M.J. Dasouki, and A.W. Strauss Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia J. Inherit. Metab. Dis. 22 7 1999 811 814
    • (1999) J. Inherit. Metab. Dis. , vol.22 , Issue.7 , pp. 811-814
    • Ibdah, J.A.1    Dasouki, M.J.2    Strauss, A.W.3
  • 39
    • 0032978083 scopus 로고    scopus 로고
    • Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis
    • D. Matern, A.W. Strauss, S.L. Hillman, E. Mayatepek, D.S. Millington, and F.K. Trefz Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis Pediatr. Res. 46 1 1999 45 49
    • (1999) Pediatr. Res. , vol.46 , Issue.1 , pp. 45-49
    • Matern, D.1    Strauss, A.W.2    Hillman, S.L.3    Mayatepek, E.4    Millington, D.S.5    Trefz, F.K.6
  • 40
    • 14644405077 scopus 로고    scopus 로고
    • Clinical onset and prognosis of Japanese children with mitochondrial B oxidation disorders: Significance of newborn mass screening
    • S. Yamaguchi Clinical onset and prognosis of Japanese children with mitochondrial B oxidation disorders: significance of newborn mass screening J. Kor. Soc. Inherit. Metab. Dis. 4 1 2004 61 63
    • (2004) J. Kor. Soc. Inherit. Metab. Dis. , vol.4 , Issue.1 , pp. 61-63
    • Yamaguchi, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.