EPNS 2022 infographic: Unmasking AADC deficiency: An underdiagnosed and underreported neurometabolic disorder

This infographic, distributed at the 14th EPNS Congress, held in Glasgow in April 2022, provides an overview of the challenges in recognizing and diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency

  • Recognize the signs and symptoms of AADC deficiency and learn about the key diagnostic tests to aid early and accurate diagnosis
  • Learn about the non-invasive and rapid metabolomic strategies that may help to achieve earlier diagnosis
  • Understand how increased awareness benefits the real-life experiences of AADC deficiency from the perspective of patients and caregivers

This infographic was developed and funded by PTC Therapeutics for EPNS 2022. It is not part of the official program at EPNS 2022.

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MED-ALL-AADC-2200099 | June 2022
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