This website is organized and funded by PTC Therapeutics AB Sweden for healthcare professionals residing in the Nordics and BeNeLux region.

Interactive clinical cases


Review the clinical case studies on this page, guided by leading experts, to reinforce your understanding of aromatic L-amino acid decarboxylase (AADC) deficiency. Interactive questions will test your knowledge and support you in making accurate, timely diagnoses.

Case study 1

Dr Tessa Wassenberg discusses the clinical case of a young boy presenting at 5 months with reduced facial movements and profound axial hypotonia.

Based on his presentation and family history, what would be your initial diagnosis of this patient:

Please choose your answer:

Which of the following diagnostic tests would you carry out at this stage?

Please choose your answer:

Following the diagnosis of AADC deficiency, what would be your first-line treatment?

Please choose your answer:

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Suspect AADC deficiency? Act now

  • Tests to diagnose patients with AADC deficiency often show elevated plasma 3-OMD levels1–3
  • Earlier diagnosis may be achieved by dry blood spot testing for 3-OMD4,5

Find out more about 3-OMD testing now at:

  1. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
  2. Chen PW, et al. Clin Chim Acta. 2014;431:19–22.
  3. Brennenstuhl H, et al. J Inherit Metab Dis. 2020;43:602–610.
  4. Hyland K, Reott M. Pediatr Neurol. 2020;106:38–42.
  5. Chien YH, et al. Mol Genet Metab. 2016;118:259–263.


SE-AADC-0303 | April 2024

Welcome to AADC Awareness

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including AADC deficiency

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