메뉴 건너뛰기




Volumn 30, Issue 3, 2009, Pages 284-286

A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: Utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death

Author keywords

Fatty acid oxidation; Inborn errors of metabolism; Medium chain acyl CoA dehydrogenase (MCAD) deficiency; Newborn metabolic screen; Sudden unexplained infant death

Indexed keywords

FATTY ACID; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 69549120040     PISSN: 01957910     EISSN: None     Source Type: Journal    
DOI: 10.1097/PAF.0b013e318187e09b     Document Type: Article
Times cited : (9)

References (27)
  • 3
    • 50749093820 scopus 로고
    • The incidence of alkaptonuria: A study in chemical individuality
    • Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet. 1902;2:1616-1620.
    • (1902) Lancet , vol.2 , pp. 1616-1620
    • Garrod, A.E.1
  • 4
    • 0001096335 scopus 로고
    • Inheritance of phenylpyruvic amentia (phenylketonuria)
    • Penrose LS. Inheritance of phenylpyruvic amentia (phenylketonuria). Lancet. 1935;2:192-194.
    • (1935) Lancet , vol.2 , pp. 192-194
    • Penrose, L.S.1
  • 5
    • 50449135748 scopus 로고
    • Influence of phenylalanine intake on phenylketonuria
    • Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet. 1953;265:812-813.
    • (1953) Lancet , vol.265 , pp. 812-813
    • Bickel, H.1    Gerrard, J.2    Hickmans, E.M.3
  • 6
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32:338-343.
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 7
    • 34249689535 scopus 로고    scopus 로고
    • Keeping up with the newborn screening revolution
    • serial online
    • Tarini BA, Freed GL. Keeping up with the newborn screening revolution [serial online]. Contemp Pediatr. 2007;24:36-50.
    • (2007) Contemp Pediatr , vol.24 , pp. 36-50
    • Tarini, B.A.1    Freed, G.L.2
  • 8
    • 0037685217 scopus 로고    scopus 로고
    • Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    • DOI 10.1056/NEJMoa025225
    • Wilcken B, Wiley V, Hammond J, et al. Screening newborns for inborn errors of metabolism by mass tandem spectrometry. N Engl J Med. 2003;348:2304-2312. (Pubitemid 36638104)
    • (2003) New England Journal of Medicine , vol.348 , Issue.23 , pp. 2304-2312
    • Wilcken, B.1    Wiley, V.2    Hammond, J.3    Carpenter, K.4
  • 10
    • 34247251944 scopus 로고    scopus 로고
    • Social inequalities in perinatal mortality in Belo Horizonte, Brazil: The role of hospital care
    • DOI 10.2105/AJPH.2005.075986
    • Lansky S, Franca E, Kawachi I. Social inequalities in perinatal mortality in Belo Horizonte, Brazil: the role of Hospital care. Am J Public Health. 2007;97:867-873. (Pubitemid 47280133)
    • (2007) American Journal of Public Health , vol.97 , Issue.5 , pp. 867-873
    • Lansky, S.1    Franca, E.2    Kawachi, I.3
  • 11
    • 0142173206 scopus 로고
    • Causes and classification of fetal and perinatal death
    • Wigglesworth JS, Singer DB, eds. Cambridge, MA: Blackwell Scientific
    • Wigglesworth JS. Causes and classification of fetal and perinatal death. In: Wigglesworth JS, Singer DB, eds. Textbook of Fetal and Perinatal Pathology. Cambridge, MA: Blackwell Scientific; 1991:77-91.
    • (1991) Textbook of Fetal and Perinatal Pathology , pp. 77-91
    • Wigglesworth, J.S.1
  • 12
    • 3142751311 scopus 로고
    • Classification and causes of perinatal mortality
    • Bound JP, Butler NR, Spector WG. Classification and causes of perinatal mortality. Br Med J. 1956;2:1191-1196.
    • (1956) Br Med J , vol.2 , pp. 1191-1196
    • Bound, J.P.1    Butler, N.R.2    Spector, W.G.3
  • 14
    • 0018858409 scopus 로고
    • Monitoring perinatal mortality. a pathophysiological approach
    • Wigglesworth JS. Monitoring perinatal mortality: a pathophysiological approach. Lancet. 1980;2:684-686. (Pubitemid 10048662)
    • (1980) Lancet , vol.2 , Issue.8196 , pp. 684-686
    • Wigglesworth, J.S.1
  • 15
    • 0030664016 scopus 로고    scopus 로고
    • Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrophotometry
    • Chace DH, Hillman SL, Van Hove, et al. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrophotometry. Clin Chem. 1997;43:2106-2113.
    • (1997) Clin Chem , vol.43 , pp. 2106-2113
    • Chace, D.H.1    Hillman, S.L.2    Van, H.3
  • 17
    • 19944380171 scopus 로고    scopus 로고
    • 8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation
    • DOI 10.1007/s10545-005-0551-6
    • Blois B, Riddell C, Dooley K, et al. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. J Inherit Metab Dis. 2005;28:551-556. (Pubitemid 40753683)
    • (2005) Journal of Inherited Metabolic Disease , vol.28 , Issue.4 , pp. 551-556
    • Blois, B.1    Riddell, C.2    Dooley, K.3    Dyack, S.4
  • 18
    • 0030688009 scopus 로고    scopus 로고
    • Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death
    • Chalmers RA, Stanley CA, English N, et al. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr. 1997;131:220-225.
    • (1997) J Pediatr , vol.131 , pp. 220-225
    • Chalmers, R.A.1    Stanley, C.A.2    English, N.3
  • 19
    • 0033224545 scopus 로고    scopus 로고
    • Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review
    • Wang SS, Fernhoff PM, Hannon WH, et al. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999;1:332-339. (Pubitemid 129736037)
    • (1999) Genetics in Medicine , vol.1 , Issue.7 , pp. 332-339
    • Wang, S.S.1
  • 20
    • 0028067548 scopus 로고
    • A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
    • Brackett JC, Sims HF, Steiner RD, et al. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest. 1994;94:1477-1483.
    • (1994) J Clin Invest , vol.94 , pp. 1477-1483
    • Brackett, J.C.1    Sims, H.F.2    Steiner, R.D.3
  • 21
    • 20444505209 scopus 로고    scopus 로고
    • Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification
    • DOI 10.1097/01.GIM.0000164548.54482.9D
    • Ensenauer R, Winters JL, Parton PA, et al. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genet Med. 2005;7:339-343. (Pubitemid 40827583)
    • (2005) Genetics in Medicine , vol.7 , Issue.5 , pp. 339-343
    • Ensenauer, R.1    Winters, J.L.2    Parton, P.A.3    Kronn, D.F.4    Kim, J.-W.5    Matern, D.6    Rinaldo, P.7    Hahn, S.H.8
  • 22
    • 2542420892 scopus 로고    scopus 로고
    • Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status
    • DOI 10.1016/j.ymgme.2004.03.002, PII S1096719204000927
    • Korman SH, Gutman A, Brooks R, et al. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. Mol Genet Metab. 2004;82:121-129. (Pubitemid 38692549)
    • (2004) Molecular Genetics and Metabolism , vol.82 , Issue.2 , pp. 121-129
    • Korman, S.H.1    Gutman, A.2    Brooks, R.3    Sinnathamby, T.4    Gregersen, N.5    Andresen, B.S.6
  • 23
    • 0033188330 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman
    • Raymond K, Bale AE, Barnes CA, et al. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45-year-old woman, Genet Med. 1999;1:293-294. (Pubitemid 129736032)
    • (1999) Genetics in Medicine , vol.1 , Issue.6 , pp. 293-294
    • Raymond, K.1    Bale, A.E.2    Barnes, C.A.3    Rinaldo, P.4
  • 25
    • 69549143862 scopus 로고    scopus 로고
    • Fatty acids and eicosanoids
    • San Diego, CA: Harcourt/Academic Press
    • Bhagavan NV. Fatty acids and eicosanoids. In: Medical Biochemistry. San Diego, CA: Harcourt/Academic Press; 2002:365-399.
    • (2002) Medical Biochemistry , pp. 365-399
    • Bhagavan, N.V.1
  • 26
    • 7944226419 scopus 로고    scopus 로고
    • Metabolic homeostasis
    • San Diego, CA: Harcourt/Academic Press
    • Bhagavan NV. Metabolic homeostasis. In: Medical Biochemistry. San Diego, CA: Harcourt/Academic Press; 2002:485-519.
    • (2002) Medical Biochemistry , pp. 485-519
    • Bhagavan, N.V.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.