Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
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.
Niu
Dau-Ming
DM
Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No.155, Sec.2, Linong Street, Taipei, Taiwan. dmniu1111@yahoo.com.tw
Chien
Yin-Hsiu
YH
Chiang
Chuan-Chi
CC
Ho
Hui-Chen
HC
Hwu
Wuh-Liang
WL
Kao
Shu-Min
SM
Chiang
Szu-Hui
SH
Kao
Chuan-Hong
CH
Liu
Tze-Tze
TT
Chiang
Hung
H
Hsiao
Kwang-Jen
KJ
D015415:Biomarkers / Q000097:blood; D001800:Blood Specimen Collection; D019538:Health Care Surveys; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D009313:National Health Programs; D015997:Neonatal Screening / Q000379:methods*; D011237:Predictive Value of Tests; D011379:Prognosis; D013624:Taiwan / Q000453:epidemiology; D053719:Tandem Mass Spectrometry; D013997:Time Factors
D015415:Biomarkers