Home | Central Nervous System | Aromatic L-amino acid decarboxylase (AADC) deficiency | Congress activities | European Paediatric Neurology Society (EPNS) Congress | EPNS 2022 infographic: Unmasking AADC deficiency: An underdiagnosed and underreported neurometabolic disorder

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.

Register now to unlock the content

Register now to access the content on this page

Already registered?
If not, register below

Registration
  • This Website is intended only for healthcare professionals (“Website“), is operated by PTC Therapeutics. (together with its affiliates “PTC”). In order to access the restricted content on this Website:

    *
    *
  • PTC will delete immediately the information provided if we cannot confirm you are healthcare professional.
    Otherwise, in case of successful verification, PTC will retain the information provided for a period of two (2) years two (2) years following your registration (i) only for the purposes of providing you access to this Website; and/or (ii) in case you signed up to receive PTC updates.

Providing your personal data and your consent is voluntary, and you have the right to withdraw your consent at any time, without giving any reasons. Please consult our Privacy Statement for more information on the processing of your personal data.
For any enquiry relating to the processing of your personal data or if you want to exercise your privacy related rights or withdraw your consent, you can contact PTC’s Privacy Office at: Dataprivacy@ptcbio.com.

You can unsubscribe from updates at any time when receiving an email from PTC.

MED-ALL-AADC-2200099 | June 2022
Sign in or register to access exclusive content on this site 
  REGISTER

Welcome to MEDhub

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides you with the latest scientific data and expert
insights on the diagnosis and management of a range of rare diseases across the neuromuscular system, central nervous system, and other areas

This content is protected. To view it please enter your email address below:

Register here to access the content on the site
MED-ALL-CORP-2200029 | December 2022

COMING SOON

The content you are trying to access is not currently available.

We will be updating the MEDhub site regularly to provide you with up-to-date, insightful expert-led content. To be notified when new additions become available, register now.