作者
Yin-Hsiu Chien, Pin-Wen Chen, Ni-Chung Lee, Wu-Shiun Hsieh, Pao-Chin Chiu, Wuh-Liang Hwu, Fuu-Jen Tsai, Shuan-Pei Lin, Shao-Yin Chu, Yuh-Jyh Jong, Mei-Chyn Chao
发表日期
2016/8/1
期刊
Molecular genetics and metabolism
卷号
118
期号
4
页码范围
259-263
出版商
Academic Press
简介
Background
The diagnosis of aromatic l-amino-acid decarboxylase (AADC) deficiency is often delayed because a cerebrospinal fluid analysis is required to detect a neurotransmitter deficiency. We here demonstrated that an elevated concentration of l-dopa metabolite 3-O-methyldopa (3-OMD) in dried blood spots could be integrated into newborn screening program to precisely predict AADC deficiency.
Methods
After obtaining parental consent, an additional spot was punched from newborn filter paper, eluted, cleaned, and analyzed by tandem mass spectrometry. Newborns with a 3-OMD concentration exceeding 500 ng/mL were referred for confirmatory testing.
Results
From September 2013 to December 2015, 127,987 newborns were screened for AADC deficiency. The mean 3-OMD concentration in these newborns was 88.08 ng/mL (SD = 27.74 ng/mL). Four newborns exhibited an elevated 3-OMD concentration …
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YH Chien, PW Chen, NC Lee, WS Hsieh, PC Chiu… - Molecular genetics and metabolism, 2016
