3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency
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- 作者：Yin-Hsiu Chiena ; b ; h ; Pin-Wen Chena ; Ni-Chung Leea ; b ; h ; Wu-Shiun Hsiehb ; h ; Pao-Chin Chiuc ; Wuh-Liang Hwua ; b ; h ; hwuwlntu@ntu.edu.tw" class="auth_mail" title="E-mail the corresponding author ; Fuu-Jen Tsaid ; Shuan-Pei Line ; Shao-Yin Chuf ; Yuh-Jyh Jongg ; Mei-Chyn Chaog
- 关键词：3-OMD ; 3-O-methyldopa ; AADC ; Aromatic l-amino acid decarboxylase ; CI ; confidence interval ; DBS ; dried blood spots ; GA ; gestational age ; HIAA ; 5-hydroxyindolacetic acid ; HVA ; homovanillic acid ; LC-MS/MS ; Liquid chromatography-tandem mass spectrometry ; OGC ; oculogyric crisis ; PET ; positron emission tomography
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：118
- 期：4
- 页码：259-263
- 全文大小：365 K
文摘
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Newborn screen for AADC deficiency using dried blood spot 3-OMD as a biomarker is feasible.
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We successful detected four newborns with 3-OMD elevation, indicating an incidence of AADC deficiency of 1:32,000.
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Prematurity tends to have slightly higher 3-OMD levels.