@article{5ae9e7c25606458587b0956e9a96becc,
title = "Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan",
abstract = "Background: The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening. Methods: Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology. A total of 22 newborns were referred to confirmatory medical centers, and 7 were confirmed as having MMA. The initial propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio, plasma ammonia, liver function tests, blood pH and bicarbonate were compared between the true-positive and false-positive groups. Results: The C3/C2 ratio and plasma ammonia were markedly higher in the true-positive MMA group (p < 0.0001). Blood gas pH (p = 0.029), bicarbonate (p = 0.019), and aspartate aminotransferase (p = 0.005) also significantly differed between these 2 groups. Conclusion: Referred newborns with elevated plasma C3/C2 ratios > 0.4 or ammonia levels > 200 mg/dL should be highly suspected of having MMA.",
keywords = "Methylmalonic aciduria, Newborn screening, Taiwan, Tandem mass spectrometry",
author = "Cheng, {Kang Hsiang} and Liu, {Mei Ying} and Kao, {Chuan Hong} and Chen, {Yann Jang} and Hsiao, {Kwang Jen} and Liu, {Tze Tze} and Lin, {Hsiang Yu} and Huang, {Cheng Hung} and Chiang, {Chuan Chi} and Ho, {Huey Jane} and Lin, {Shuan Pei} and Lee, {Ni Chung} and Hwu, {Wuh Liang} and Lin, {Ju Li} and Hung, {Ping Yao} and Niu, {Dau Ming}",
note = "Funding Information: Departments of 1Pediatrics, and 2Medical Research and Education, Taipei Veterans General Hospital; 3Institute of Genetics, School of Life Sciences, 4VYM Genome Research Center, and 5Institute of Clinical Medicine, National Yang-Ming University School of Medicine; 6Department of Pediatrics, Far Eastern Memorial Hospital; 7Department of Pediatrics, Renai Branch, Taipei City Hospital; 8Department of Pediatrics, Mackay Memorial Hospital; 9Neonatal Screening Center, Chinese Foundation of Health; 10Section of Newborn Screening, Taipei Institute of Pathology; 11Department of Medical Genetics, National Taiwan University Hospital, Taipei; 12Department of Pediatrics, Chang Gung Children{\textquoteright}s Hospital, Taoyuan; and 13Association of Congenital and Inherited Metabolic Disease, Taipei, Taiwan, R.O.C.",
year = "2010",
month = jun,
doi = "10.1016/S1726-4901(10)70067-8",
language = "English",
volume = "73",
pages = "314--318",
journal = "Journal of the Chinese Medical Association",
issn = "1726-4901",
publisher = "Elsevier Taiwan LLC",
number = "6",
}