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

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• 作者：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 H
• 关键词：methylmalonic aciduria ; newborn screening ; Taiwan ; tandem mass spectrometry
• 刊名：Journal of the Chinese Medical Association
• 出版年：2010
• 出版时间：June 2010
• 年：2010
• 卷：73
• 期：6
• 页码：314-318
• 全文大小：180 K

文摘

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.