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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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Welcome to AADC Insights

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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