https://scholars.lib.ntu.edu.tw/handle/123456789/565415
標題: | Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases | 作者: | Kubaski F. Herbst Z.M. Pereira D.A.A. Silva C. Chen C. WUH-LIANG HWU van der Linden H. Louren?o C.M. Giugliani R. |
關鍵字: | 3-O-methyldopa; Aromatic L-amino acid decarboxylase deficiency; Liquid chromatography tandem mass spectrometry; Newborn screening | 公開日期: | 2021 | 出版社: | Elsevier Inc. | 卷: | 27 | 起(迄)頁: | 100744 | 來源出版物: | Molecular Genetics and Metabolism Reports | 摘要: | Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading to severe motor dysfunction. The main clinical signs are oculogyric crisis, hypotonia, hypokinesia, and dystonia. The biochemical diagnosis can be performed in cerebrospinal fluid by neurotransmitter analysis, which requires an invasive lumbar puncture, and the sample needs to be shipped frozen to a reference laboratory, usually across a country border. Measurement of AADC activity in plasma is also possible, but available in a few labs globally. 3-O-methyldopa (3-OMD) is a catabolic product of L-dopa and it is elevated in patients with AADC deficiency. The quantification of 3-OMD can be performed in dried blood spots (DBS), a sample that could be shipped at room temperature. 3-OMD levels of AADCD patients and controls were quantified in DBS by liquid chromatography tandem mass spectrometry. DBS samples from 7 Brazilian patients previously diagnosed with AADCD were used to validate the 3-OMD quantification as a screening procedure for this condition. All AADCD patients had at least a four-fold increase of 3-OMD. Thus, 3-OMD seems to be a reliable marker for AADCD, with potential use also in the newborn screening of this disease. ? 2021 |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85102383185&doi=10.1016%2fj.ymgmr.2021.100744&partnerID=40&md5=576e0f07e7238ad8b8fc2f7958336adf https://scholars.lib.ntu.edu.tw/handle/123456789/565415 |
ISSN: | 2214-4269 | DOI: | 10.1016/j.ymgmr.2021.100744 | SDG/關鍵字: | 3 o methyldopa; aromatic levo amino acid decarboxylase; adolescent; adult; aromatic levo amino acid decarboxylase deficiency; Article; autosomal recessive disorder; calibration; child; clinical article; controlled study; dried blood spot testing; enzyme activity; enzyme deficiency; female; genotype; human; human tissue; limit of detection; limit of quantitation; liquid chromatography-mass spectrometry; male; metabolic disorder; multiple reaction monitoring; muscle hypotonia; neurologic disease; oculogyric crisis; room temperature; screening; sensitivity and specificity; vein puncture |
顯示於: | 醫學系 |
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