Home | Central Nervous System | Aromatic L-amino acid decarboxylase (AADC) deficiency | Publications | Publication: Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency

Publication: Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency

This original study article, published in the Journal of Chromatography B, outlines a study to establish a reliable method to assess both 5-hydroxytryptophan (5-HTP) and 3-O-methyldopa (3-OMD) in dried blood spot (DBS) analysis through ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) technology, for the biochemical diagnosis of AADC deficiency

  • Review the role of high-performance liquid chromatography (HPLC) analysis of cerebrospinal fluid (CSF) neurotransmitter metabolites in the diagnosis of AADC deficiency
  • Find out about a new tool for the detection of 5-HTP alongside 3-OMD in DBS for the diagnosis of AADC deficiency
  • Understand the mechanism behind simultaneous measurement of 5-HTP and 3-OMD in DBS and how this improves the specificity and sensitivity of the biochemical diagnosis of AADC deficiency is discussed

Di Carlo E, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2021;1185:122999

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Eladocagene exuparvovec is currently an investigational gene therapy product in the US. Eladocagene exuparvovec has been granted marketing authorization by the European Commission for the European Union Member States, Iceland, Norway, Northern Ireland, and Lichtenstein and granted marketing authorization by the UK MHRA for Great Britain.

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US-AADC-0497 | August 2023
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