Journal of the Chinese Medical Association
Volume 73, Issue 6 , Pages 314-318, June 2010

Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan

  • Kang-Hsiang Cheng

      Affiliations

    • Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Kang-Hsiang Cheng and Mei-Ying Liu contributed equally to this work.
    • ,
  • Mei-Ying Liu

      Affiliations

    • Institute of Genetics, School of Life Sciences, Taipei, Taiwan, R.O.C.
    • Kang-Hsiang Cheng and Mei-Ying Liu contributed equally to this work.
    • ,
  • Chuan-Hong Kao

      Affiliations

    • Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Yann-Jang Chen

      Affiliations

    • Department of Pediatrics, Renai Branch, Taipei City Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Kwang-Jen Hsiao

      Affiliations

    • Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Tze-Tze Liu

      Affiliations

    • VYM Genome Research Center, Taipei, Taiwan, R.O.C.
    • ,
  • Hsiang-Yu Lin

      Affiliations

    • Institute of Clinical Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Cheng-Hung Huang

      Affiliations

    • Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Institute of Clinical Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chuan-Chi Chiang

      Affiliations

    • Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan, R.O.C.
    • ,
  • Huey-Jane Ho

      Affiliations

    • Section of Newborn Screening, Taipei Institute of Pathology, Taipei, Taiwan, R.O.C.
    • ,
  • Shuan-Pei Lin

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Ni-Chung Lee

      Affiliations

    • Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Wuh-Liang Hwu

      Affiliations

    • Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, R.O.C.
    • ,
  • Ju-Li Lin

      Affiliations

    • Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, R.O.C.
    • ,
  • Ping-Yao Hung

      Affiliations

    • Association of Congenital and Inherited Metabolic Disease, Taipei, Taiwan, R.O.C.
    • ,
  • Dau-Ming Niu

      Affiliations

    • Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Institute of Clinical Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr Dau-Ming Niu, Department of Pediatrics, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C.

Received 12 January 2010; accepted 26 February 2010.

Article Outline

Background

The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening.

Methods

Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology. A total of 22 newborns were referred to confirmatory medical centers, and 7 were confirmed as having MMA. The initial propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio, plasma ammonia, liver function tests, blood pH and bicarbonate were compared between the true-positive and false-positive groups.

Results

The C3/C2 ratio and plasma ammonia were markedly higher in the true-positive MMA group (p < 0.0001). Blood gas pH (p = 0.029), bicarbonate (p = 0.019), and aspartate aminotransferase (p = 0.005) also significantly differed between these 2 groups.

Conclusion

Referred newborns with elevated plasma C3/C2 ratios > 0.4 or ammonia levels > 200 mg/dL should be highly suspected of having MMA.

Key Words:  methylmalonic aciduria , newborn screening , Taiwan , tandem mass spectrometry

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References 

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PII: S1726-4901(10)70067-8

doi:10.1016/S1726-4901(10)70067-8

Journal of the Chinese Medical Association
Volume 73, Issue 6 , Pages 314-318, June 2010

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