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. Identifying AADC deficiency symptoms, carrying out appropriate testing and referring to paediatric neurologists as soon as possible, can ensure an early diagnosis and improved outcomes for patients and their caregivers.1
AADC deficiency symptoms
If patients present with neurological symptoms of unknown aetiology in childhood, further testing and referral to paediatric neurologists are warranted.
- Brun L, et al. Neurology. 2010;75:64‒71.
- Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
- Lee WT. Epilepsy & Seizure. 2010;3:147‒153.
- Swoboda KJ, et al. Ann Neurol. 2003;54(Suppl 6):S49‒S55.
- Pons R, et al. Neurology. 2004;62:1058‒1065.
- Himmelreich N, et al. Mol Genet Metab. 2019;127(1):12‒22. doi: 10.1016/j.ymgme.2019.03.009.