Journal of Inherited Metabolic Disease

, Volume 33, Supplement 2, pp 295–305 | Cite as

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

  • Dau-Ming Niu
  • Yin-Hsiu Chien
  • Chuan-Chi Chiang
  • Hui-Chen Ho
  • Wuh-Liang Hwu
  • Shu-Min Kao
  • Szu-Hui Chiang
  • Chuan-Hong Kao
  • Tze-Tze Liu
  • Hung Chiang
  • Kwang-Jen Hsiao
Newborn Screening


In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia (MMA), medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA-1) using tandem mass spectrometry (MS/MS). In a pilot study, 592,717 neonates were screened for citrullinemia, 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) and other fatty acid oxidation defects in the MS/MS newborn screening. A total of 170 newborns and four mothers were confirmed to have inborn errors of metabolism. The overall incidence was approximately 1/5,882 (1/6,219 without mothers). The most common inborn errors were defects of phenylalanine metabolism [five classic PKU, 20 mild PKU, 40 mild hyperphenylalaninemia (HPA), and 13 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency]. MSUD was the second most common amino acidopathy and, significantly, most MSUD patients (10/13) belonged to the Austronesian aboriginal tribes of southern Taiwan. The most frequently detected among organic acid disorders was 3-MCC deficiency (14 newborns and four mothers). GA-1 and MMA were the second most common organic acid disorders (13 and 13 newborns, respectively). In fatty acid disorders, five carnitine transport defect (CTD), five short-chain acyl-CoA dehydrogenase deficiency (SCAD), and two medium-chain acyl-CoA dehydrogenase (MCAD) deficiency were confirmed. This is the largest case of MS/MS newborn screening in an East-Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS/MS newborn screening program.


Positive Predictive Value Carnitine Newborn Screening Maple Syrup Urine Disease Maple Syrup Urine Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



2-methylbutyryl-CoA dehydrogenase


3-methylcrotonyl-coenzyme A carboxylase


arginiosuccinate lyase


argininosuccinate synthetase




cobalamin C




carnitine transporter defect

CTLN1 or 2

citrullinemia type 1 or 2


carnitine palmityl transferase II


dihydropteridine reductase


fatty acid oxidation

GA 1 or 2

glutaric acidemia type 1 or 2


holocarboxylase synthetase






isovaleric academia




long-chain 3-hydroxyacyl-CoA dehydrogenase


medium-chain acyl-CoA dehydrogenase


multicarboxylase deficiency




methylmalonic aciduria


tandem mass spectrometry


propionic academia


phenylalanine hydroxylase






6-pyruvoyl-tetrahydropterin synthase


short-chain acyl-CoA dehydrogenase




very-long-chain acyl-CoA dehydrogenase



free carnitine






isobutyryl and butyrylcarnitine


isovaleryl and 2-methylbutyrylcarnitine


hydroxyisovalerylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine


















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Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Dau-Ming Niu
    • 1
    • 2
  • Yin-Hsiu Chien
    • 3
    • 4
  • Chuan-Chi Chiang
    • 5
  • Hui-Chen Ho
    • 6
  • Wuh-Liang Hwu
    • 3
    • 4
  • Shu-Min Kao
    • 5
  • Szu-Hui Chiang
    • 8
  • Chuan-Hong Kao
    • 2
  • Tze-Tze Liu
    • 7
  • Hung Chiang
    • 6
  • Kwang-Jen Hsiao
    • 8
    • 9
  1. 1.Institute of Clinical Medicine, School of MedicineNational Yang Ming UniversityTaipeiTaiwan
  2. 2.Department of PediatricsTaipei Veterans General HospitalTaipeiTaiwan
  3. 3.Department of Medical GeneticsNational Taiwan University Hospital, National Taiwan University College of MedicineTaipeiTaiwan
  4. 4.Department of PediatricsNational Taiwan University Hospital, National Taiwan University College of MedicineTaipeiTaiwan
  5. 5.Chinese Foundation of HealthTaipeiTaiwan
  6. 6.Taipei Institute of PathologyTaipeiTaiwan
  7. 7.Genome Research CenterNational Yang-Ming UniversityTaipeiTaiwan
  8. 8.Department of Medical Research and EducationTaipei Veterans General HospitalTaipeiTaiwan
  9. 9.Department of Education and ResearchTaipei City HospitalTaipeiTaiwan

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