aIn one study, one newborn had a false positive; investigations showed the mother was on l-DOPA therapy during pregnancy.3
Abbreviations: GC-MS, gas chromatography mass spectrometry; l-DOPA, L 3,4 dihydroxyphenylalanine; CSF, cerebrospinal fluid; DBS, dried blood spot; 3-OMD, 3-O-methyldopa; 5-HIAA, 5-hydroxyindoleacetic acid; 5-HTP, 5-hydroxytryptophan; HVA, homovanillic acid; VLA, vanillactic acid.
References: 1. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12(1):12. doi:10.1186/s13023-016-0522-z. 2. Chen PW, et al. Clin Chim Acta. 2014;431:19-22. 3. Brennenstuhl H, et al. J Inherit Metab Dis. 2019;doi:10.1002/jimd.12208. 4. Hyland K, Reott M. Pediatr Neurol. 2020;106:38-42 5. Chien YH, et al. Mol Genet Metab. 2016;118(4):259-263. 6. Data on file. CENTOGENE AG. 2019