Introduction
There is considerable overlap of signs and symptoms of aromatic L-amino acid decarboxylase (AADC) deficiency with other, more commonly seen neurological disorders and this often leads to misdiagnosis.1–5 Identifying AADC deficiency symptoms, carrying out appropriate testing and referring to paediatric neurologists as soon as possible, can help to ensure an early diagnosis and may improve outcomes for patients and their caregivers.6,7
AADC deficiency symptoms
Learn more about differential diagnoses
REGISTER NOW: Access exclusive expert-led educational content
- Brun L, et al. Neurology. 2010;75:64‒71.
- Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
- Krigger KW. Am Fam Physician. 2006;73(1):91–100.
- Ng J, et al. Nat Rev Neurol. 2015;11(10):567–584.
- Kurian MA, Dale RC. Continuum. 2016;22(4):1159–1185.
- Pons R, et al. Neurology. 2004;62:1058‒1065.
- Himmelreich N, et al. Mol Genet Metab. 2019;127(1):12‒22.
- National Organization for Rare Diseases. AADC deficiency. Available from: https://rarediseases.org/rare-diseases/aromatic-l-amino-acid-decarboxylase-deficiency. Accessed January 2022
GL-AADC-1033 | February 2022