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

Abstract

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.

Abbreviations

2MBCD

2-methylbutyryl-CoA dehydrogenase

3-MCC

3-methylcrotonyl-coenzyme A carboxylase

ASL

arginiosuccinate lyase

ASS

argininosuccinate synthetase

BH4

tetrahydrobiopterin

cblC

cobalamin C

Cit

citrulline

CTD

carnitine transporter defect

CTLN1 or 2

citrullinemia type 1 or 2

CPT2

carnitine palmityl transferase II

DHPR

dihydropteridine reductase

FAO

fatty acid oxidation

GA 1 or 2

glutaric acidemia type 1 or 2

HCS

holocarboxylase synthetase

HPA

hyperphenylalaninemia

Ile

isoleucine

IVA

isovaleric academia

Leu

leucine

LCHAD

long-chain 3-hydroxyacyl-CoA dehydrogenase

MCAD

medium-chain acyl-CoA dehydrogenase

MCD

multicarboxylase deficiency

Met

methionine

MMA

methylmalonic aciduria

MS/MS

tandem mass spectrometry

PA

propionic academia

PAH

phenylalanine hydroxylase

Phe

phenylalanine

PKU

phenylketonuria

PTPS

6-pyruvoyl-tetrahydropterin synthase

SCAD

short-chain acyl-CoA dehydrogenase

Tyr

tyrosine

VLCAD

very-long-chain acyl-CoA dehydrogenase

Acylcarnitine

C0

free carnitine

C2

acetylcarnitine

C3

propionylcarnitine

C4

isobutyryl and butyrylcarnitine

C5

isovaleryl and 2-methylbutyrylcarnitine

C5OH

hydroxyisovalerylcarnitine and 2-methyl-3-hydroxybutyrylcarnitine

C5DC

glutarylcarnitine

C6

hexanoylcarnitine

C8

octanoylcarnitine

C10

decanoylcarnitine

C10:1

decenoylcarnitine

C14:1

tetradecenoylcarnitine

C16

palmitoylcarnitine

C18:1

oleylcarnitine

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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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