Webinar: Utilization of urine organic acid analysis in the diagnostic workup of patients with aromatic L-amino acid decarboxylase (AADC) deficiency

Learn how to recognize and differentially diagnose AADC deficiency in children in this recording of a PTC Therapeutics live webinar from September 2020

  • Review the clinical presentation and history of three patients whose diagnostic workup aided in the diagnosis of AADC deficiency
  • Understand the basic indications and methodology for testing with urinary organic acid analysis as a supplementary tool for the diagnosis of inborn errors of metabolism (IEM), including AADC deficiency
  • Recognize the limitations of organic acid testing and variability in the concentrations of key metabolites

This is a recording of our live webinar ‘Utilisation of urine organic acid analysis in the diagnostic workup of patients with AADC deficiency’ and was sponsored by PTC Therapeutics.

This webinar recording has been chapterized to enable ease of viewing.

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