{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:58:47Z","timestamp":1770818327625,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2010,6,22]],"date-time":"2010-06-22T00:00:00Z","timestamp":1277164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010chain acyl\u2010coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA\u20101) using tandem mass spectrometry (MS\/MS). In a pilot study, 592,717 neonates were screened for citrullinemia, 3\u2010methylcrotonyl\u2010CoA carboxylase deficiency (3\u2010MCC) 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\u2010pyruvoyl\u2010tetrahydropterin 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\u2010MCC deficiency (14 newborns and four mothers). GA\u20101 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\u2010chain acyl\u2010CoA dehydrogenase deficiency (SCAD), and two medium\u2010chain acyl\u2010CoA dehydrogenase (MCAD) deficiency were confirmed. This is the largest case of MS\/MS newborn screening in an East\u2010Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS\/MS newborn screening program.<\/jats:p>","DOI":"10.1007\/s10545-010-9129-z","type":"journal-article","created":{"date-parts":[[2010,6,21]],"date-time":"2010-06-21T06:39:52Z","timestamp":1277102392000},"page":"295-305","source":"Crossref","is-referenced-by-count":121,"title":["Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan"],"prefix":"10.1002","volume":"33","author":[{"given":"Dau\u2010Ming","family":"Niu","sequence":"first","affiliation":[{"name":"Institute of Clinical Medicine, School of Medicine National Yang Ming University No.155, Sec.2, Linong Street Taipei 112 Taiwan"},{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei 112 Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin\u2010Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital, National Taiwan University College of Medicine Taipei Taiwan"},{"name":"Department of Pediatrics National Taiwan University Hospital, National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan\u2010Chi","family":"Chiang","sequence":"additional","affiliation":[{"name":"Chinese Foundation of Health Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010Chen","family":"Ho","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital, National Taiwan University College of Medicine Taipei Taiwan"},{"name":"Department of Pediatrics National Taiwan University Hospital, National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu\u2010Min","family":"Kao","sequence":"additional","affiliation":[{"name":"Chinese Foundation of Health Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Szu\u2010Hui","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Medical Research and Education Taipei Veterans General Hospital Bldg 201, Section 2, Shih\u2010Pai Rd Taipei 112 Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan\u2010Hong","family":"Kao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital Taipei 112 Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tze\u2010Tze","family":"Liu","sequence":"additional","affiliation":[{"name":"Genome Research Center National Yang\u2010Ming University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hung","family":"Chiang","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwang\u2010Jen","family":"Hsiao","sequence":"additional","affiliation":[{"name":"Department of Medical Research and Education Taipei Veterans General Hospital Bldg 201, Section 2, Shih\u2010Pai Rd Taipei 112 Taiwan"},{"name":"Department of Education and Research Taipei City Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,6,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.012"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0545-4"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1726-4901(08)70062-5"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201069"},{"key":"e_1_2_5_6_1","unstructured":"ChiangSH HsiaoKJ(2005)Developments of neonatal screening in Taiwan.International Conference on Medicine and Promoting Healthcare for Rare Disorders pp10\u201311."},{"key":"e_1_2_5_7_1","unstructured":"ChiangSH HsiaoZS HsiaoKJ(2004)Prospective of newborn screening. In:LeeML(ed)Metabolic disorders Taiwan experience. Bureau of Health Promotion Department of Health pp29\u201352(in Chinese)"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9215"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0228-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.09.054"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1726-4901(09)70408-3"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-1783"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0451-4"},{"key":"e_1_2_5_14_1","unstructured":"laMarcaG MalvagiaS CasettaB PasquiniE DonatiMA ZammarchiE(2008)Progress in expanded newborn screening for metabolic conditions by LC\u2010MS\/MS in Tuscany: Update on methods to reduce false tests.J Inherit Metab DisDOI 10.1007\/s10545\u2010008\u20100965\u2010z"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.09.028"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.07.018"},{"key":"e_1_2_5_17_1","doi-asserted-by":"crossref","unstructured":"LeeJY ChiongMA EstradaSC Cutiongco\u2010De la PazEM SilaoCL PadillaCD(2008b)Maple syrup urine disease (MSUD)\u2014clinical profile of 47 Filipino patients.J Inherit Metab DisDOI 10.1007\/s10545\u2010008\u20100859\u20100","DOI":"10.1007\/s10545-008-0859-0"},{"key":"e_1_2_5_18_1","unstructured":"LeeNC TangNL ChienYH ChenCA LinSJ ChiuPC HuangAC HwuWL(2009)Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.Mol Genet Metab[Epub ahead of print]"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0039.2000.550101.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00669-6"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.3.387"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799385"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014310"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.01.006"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.6.1399"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.037"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.10.006"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.5.1184"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1067\/S0022-3476(03)00292-0"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9053"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1726-4901(09)70259-X"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9129-z","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9129-z","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9129-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T08:03:56Z","timestamp":1694765036000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9129-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,22]]},"references-count":30,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1007\/s10545-010-9129-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9129-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,22]]}}}