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