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 an investigational gene therapy product currently being developed by PTC Therapeutics for the treatment of patients with deficiency of a protein called AADC. Eladocagene exuparvovec does not currently have a marketing authorization for the treatment of AADC deficiency.

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MED-ALL-AADC-2200023 | March 2022
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