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

An overview of diagnostic challenges of aromatic L-amino acid decarboxylase (AADC) deficiency, key signs and symptoms, and diagnostic tests are discussed in the PTC Therapeutics symposium at the 2022 EPNS Congress

  • Understand the common differential diagnoses of AADC deficiency and diagnostic challenges in clinical practice
  • Recognize the signs and symptoms of AADC deficiency and learn about the key diagnostic tests to aid early and accurate diagnosis
  • Hear about the real-life experiences of AADC deficiency from the perspective of clinicians and caregivers

This symposium was developed and funded by PTC Therapeutics at 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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