Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan

Kang Hsiang Cheng, Mei Ying Liu, Chuan Hong Kao, Yann Jang Chen, Kwang Jen Hsiao, Tze Tze Liu, Hsiang Yu Lin, Cheng Hung Huang, Chuan Chi Chiang, Huey Jane Ho, Shuan Pei Lin, Ni Chung Lee, Wuh Liang Hwu, Ju Li Lin, Ping Yao Hung, Dau Ming Niu*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish
Pages (from-to)314-318
Number of pages5
JournalJournal of the Chinese Medical Association
Volume73
Issue number6
DOIs
StatePublished - Jun 2010

Keywords

  • Methylmalonic aciduria
  • Newborn screening
  • Taiwan
  • Tandem mass spectrometry

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