Publication: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: A case series and literature review

This case series, published in the European Journal of Paedriatics, explores the clinical presentation and diagnostic pathway for 16 patients with aromatic L-amino acid decarboxylase (AADC) deficiency in the Middle East. This report is the largest series of patients with confirmed AADC deficiency from this region reported to date

  • Discover the range of symptoms that 16 patients with AADC deficiency presented with
  • Explore the AADC deficiency diagnostic journey for the case series
  • Learn more about current management options for AADC deficiency and remaining unmet needs

Abukhaled M, et al. Eur J Pediatr. 2023;182(6):2535–2545

Once registered, you will be able to view the abstract and be provided with the DOI links for this publication.
Register now to unlock the content

Register now to access the content on this page

Already registered?
If not, register below

  • 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:

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

MED-ALL-AADC-2300229 | January 2024
Sign in or register to access exclusive content on this site 

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 | October 2023


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.