Article
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Molecular genetics and metabolism - 1 Aug 2016
Chien Yin-Hsiu, Chen Pin-Wen, Lee Ni-Chung, Hsieh Wu-Shiun, Chiu Pao-Chin, Hwu Wuh-Liang, Tsai Fuu-Jen, Lin Shuan-Pei, Chu Shao-Yin, Jong Yuh-Jyh, Chao Mei-Chyn
Abstract excerpt
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...
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