Introduction
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.
Dr Tessa Wassenberg discusses the clinical case of a young boy presenting at 5 months with reduced facial movements and profound axial hypotonia.
In this unusual case history, Dr Tessa Wassenberg presents the clinical history of a young girl presenting with atypical signs of AADC deficiency.
Professor Agathe Roubertie discusses the importance of clinical awareness of AADC deficiency in this case study of a child initially misdiagnosed with cerebral palsy.
Read about AADC deficiency from a caregiver’s perspective