title: Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
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.
authors.affiliation: Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No.155, Sec.2, Linong Street, Taipei, Taiwan. dmniu1111@yahoo.com.tw
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Chuan-Chi
authors.initials: CC
authors.lastname: Chiang
authors.forename: Hui-Chen
authors.initials: HC
authors.lastname: Ho
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Shu-Min
authors.initials: SM
authors.lastname: Kao
authors.forename: Szu-Hui
authors.initials: SH
authors.lastname: Chiang
authors.forename: Chuan-Hong
authors.initials: CH
authors.lastname: Kao
authors.forename: Tze-Tze
authors.initials: TT
authors.lastname: Liu
authors.forename: Hung
authors.initials: H
authors.lastname: Chiang
authors.forename: Kwang-Jen
authors.initials: KJ
authors.lastname: Hsiao
mesh_terms: 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
chemical_list: D015415:Biomarkers