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; received in revised form 18 January 2006; accepted 2 May 2006.

Background/Purpose

Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.

Methods

Between August 2001 and July 2004, 199,922 neonates were screened for 10 amino acids and acylcarnitines using MS/MS in a single center.

Results

In total, 29 cases of inborn errors of metabolism were detected. The overall prevalence was one per 6894 births. The most common inborn error found was 3-methylcrotonyl CoA carboxylase deficiency (10 cases, 34.5%), but none of the cases needed aggressive treatment. There were two cases of type I glu-taric aciduria, two cases of maple syrup urine disease, and one case of type II citrullinemia, and early therapeutic intervention was effective for all of them.

Conclusion

We found that MS/MS neonatal screening was valuable in the early diagnosis of severe and treatable inborn errors of metabolism such as organic acidemias and urea cycle disorders. It also detected less severe disorders that required only observation.

Key Words:  acylcarnitines , amino acids , inborn errors , neonatal screening , tandem mass

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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

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