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.

References 

  1. Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, et al  Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres . J Inherit Metab Dis . 2008;31:361–367
  2. Acquaviva C , Benoist JF , Pereira S . Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut0 and mut− forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene . Hum Mutat . 2005;25:167–176
  3. Kavita K , Behrouz R . Inherited metabolic disorders and cerebral infarction . Expert Rev Neurother . 2008;8:1731–1741
  4. Tanpaiboon P . Methylmalonic acidemia (MMA) . Mol Genet Metab . 2005;85:2–6
  5. Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, et al  Long-term outcome in methylmalonic aciduria: a series of 30 French patients . Mol Genet Metab . 2009;97:172–178
  6. Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Ariel SH Wu, et al  Brain damage by mild metabolic derangements in methylmalonic acidemia . Pediatr Neurol . 2008;39:325–329
  7. Shigematsu Y, Hirano S, Hata I, Yukie T, Masakatsu S, Nobuo S, et al  Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan . J Chromatogr B . 2002;776:39–48
  8. Schulze A , Lindner M , Kohlmuller D , Olgemöller K , Mayatepek E , Hoffmann G . Expanded neonatal screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications . Pediatrics . 2003;111:1399–1406
  9. Chace DH , Kalas TA , Naylor EW . Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns . Clin Chem . 2003;49:1797–1817
  10. Wilcken B , Wiley V , Hammond J , Carpenter K . Screening newborns for inborn errors of metabolism by tandem mass spectrometry . N Engl J Med . 2003;348:2304–2312
  11. Ia Marca G , Malvagia S , Pasquini E , Innocenti M , Donati MA , Zammarchi E . Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry . Clin Chem . 2007;53:1364–1369
  12. Coude FX , Sweetman L , Nyhan WL . Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria: a possible explanation for hyperammonemia in propionic and methylmalonic aciduria . J Clin Invest . 1979;64:1544–1551

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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