Journal of the Formosan Medical Association
Volume 105, Issue 11 , Pages 882-886 , 2006

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

  • Hsiang-Po Huang

      Affiliations

    • Departments of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Departments of Medical Research, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  • ,
  • Kai-Lin Chu

      Affiliations

    • Departments of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  • ,
  • Yin-Hsiu Chien

      Affiliations

    • Departments of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Departments of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  • ,
  • Ming-Lee Wei

      Affiliations

    • Departments of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  • ,
  • Shu-Tzu Wu

      Affiliations

    • Departments of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  • ,
  • Shiao-Fang Wang

      Affiliations

    • Departments of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
  • ,
  • Wuh-Liang Hwu

      Affiliations

    • Departments of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Departments of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Wuh-Liang Hwu, Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, Taiwan

Received 6 September 2005 ,Revised 18 January 2006 ,Accepted 2 May 2006.

References 

  1. Millington DS , Kodo N , Norwood DL , et al.   Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism . J Inherit Metab Dis . 1990;13:321–324
  2. Baumgartner MR , Almashanu S , Suormala T , et al.   The molecular basis of human 3-methylcrotonyl-CoA carboxy-lase deficiency . J Clin Invest . 2001;107:495–504
  3. Haberle J , Pauli S , Schmidt E , et al.   Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate syn-thetase deficiency (citrullinemia type 1) . Mol Genet Metab . 2003;80:302–306
  4. Wiley V , Carpenter K , Wilcken B . Neonatal screening with tandem mass spectrometry: 12 months' experience in NSW Australia . Acta Pediatri Suppl . 1999;88:48–51
  5. Wilcken B , Wiley V , Hammond J , et al.   Screening neona-tals for inborn errors of metabolism by tandem mass spectrometry . N Engl J Med. . 2003;348:2304–2312
  6. Zytkovicz TH , Fitzgerald EF , Marsden D , et al.   Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in neonatal dried blood spots: a two-year summary from the New England Neonatal Screening Program . Clin Chem . 2001;47:1945–1955
  7. Schulze A , Lindner M , Kohlmuller D , et al.   Expanded neonatal screening for inborn errors of metabolism by elec-trospray ionizationtandem mass spectrometry: results, outcome, and implications . Pediatrics . 2003;111:1399–1406
  8. Chiang SH , Hsiao YS , Hsiao KJ . Prospective of Neonatal Screening . In:  Lee ML editors. Taiwan Metabolic disorders-Taiwan experiences . Taipei: Ho Chi Book Publishing Co.; 2004;p. 29–58
  9. Lin WD , Wu JY , Lai CC , et al.   A pilot study of neonatal screening by electrospray ionization tandem mass spectro-metry in Taiwan . Acta Paediatr Taiwan . 2001;42:224–230
  10. Rashed MS , Ozand PT , Bucknall MP , et al.   Diagnosis of inborn errors of metabolism from blood spots by acylcar-nitines and amino acids profiling using automated electro-spray tandem mass spectrometry . Pediatr Res. . 1995;38:324–331
  11. Schulze A , Kohlmueller D , Mayatepek E . Sensitivity of electrospraytandem mass spectrometry using the pheny-lalanine/tyrosine-ratio for differential diagnosis of hyper-phenylalaninemia in neonates . Clin Chim Acta . 1999;283:15–20
  12. Gregersen N , Winter V , Curtis D , et al.   Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe . Hum Hered . 1993;43:342–350
  13. Wang SS , Fernhoff PM , Hannon WH , et al.   Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review . Genet Med. . 1999;1:332–339
  14. Yeung CY , Lin SP , Kao HA , et al.   Maple syrup urine disease: report of two cases . J Formos Med Assoc . 1993;92:765–768
  15. Shu SG , Tsai CR , Chen LH , et al.   Type I glutaric aciduria: phenotypes and genotypes in 5 Taiwanese children . J Formos Med Assoc . 2003;102:729–732
  16. Lin JF , Chiu PC , Hsu HY , et al.   An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease-screened by tandem mass spectrometry . Acta Paediatr Taiwan . 2004;45:287–289
  17. Wei CC , Lin WD , Tsai FJ , et al.   Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case . Acta Paediatr Taiwan . 2004;45:236–238

PII: S0929-6646(09)60173-X

doi: 10.1016/S0929-6646(09)60173-X

Journal of the Formosan Medical Association
Volume 105, Issue 11 , Pages 882-886 , 2006