https://scholars.lib.ntu.edu.tw/handle/123456789/525124
標題: | Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots | 作者: | Chen P.-W. NI-CHUNG LEE YIN-HSIU CHIEN Wu J.-Y. Wang P.-C. WUH-LIANG HWU |
公開日期: | 2014 | 卷: | 431 | 起(迄)頁: | 19-22 | 來源出版物: | Clinica Chimica Acta | 摘要: | Background: Inherited defects that affect the synthesis or metabolism of neurotransmitters cause severe motor dysfunction. The diagnosis of these diseases, including aromatic l-amino-acid decarboxylase (AADC) deficiency, typically requires cerebrospinal fluid (CSF) neurotransmitter analysis. However, 3 O-methyldopa (3-OMD), which is a catabolic product of l-dopa that accumulates in individuals with AADC deficiency, can be detected in blood. Methods: 3-OMD concentrations were measured in dried blood spots (DBSs). One 3.2-mm punch was eluted with 90% methanol containing a deuterated internal standard (3-OMD-d3), and then analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Results: 3-OMD in DBSs was shown to be stable for more than 28. days at 37. °C. We measured DBS 3-OMD concentrations in controls and patients with AADC deficiency. 3-OMD concentrations in normal newborns and children decreased with age. Patients with AADC deficiency revealed >. 15-fold increase of DBS 3-OMD concentrations. Archive newborn screening DBS samples, obtained from 6 patients with AADC deficiency, revealed more than 19-fold increase of 3-OMD concentrations. Conclusions: We demonstrated that DBS 3-OMD concentrations were highly elevated in newborns and children with AADC deficiency. Because 3-OMD is stable in DBS, this method can be used for both high risk and newborn screening of AADC deficiency. ? 2014 Elsevier B.V. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84893913249&doi=10.1016%2fj.cca.2014.01.034&partnerID=40&md5=08d5232b9c50b2e9044c7ce9a214ce12 https://scholars.lib.ntu.edu.tw/handle/123456789/525124 |
ISSN: | 0009-8981 | DOI: | 10.1016/j.cca.2014.01.034 | SDG/關鍵字: | 3-O-methyl-DOPA; aromatic levo amino acid decarboxylase; DOPA; Amino Acid Metabolism, Inborn Errors; analogs and derivatives; blood; calibration; child; deficiency; dried blood spot testing; high performance liquid chromatography; human; infant; newborn; newborn screening; preschool child; quality control; reproducibility; standard; tandem mass spectrometry; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Calibration; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dihydroxyphenylalanine; Dried Blood Spot Testing; Humans; Infant; Infant, Newborn; Neonatal Screening; Quality Control; Reference Standards; Reproducibility of Results; Tandem Mass Spectrometry |
顯示於: | 醫學系 |
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