This website is organized and funded by PTC Therapeutics AB Sweden for healthcare professionals residing in the Nordics and BeNeLux region.

Symptoms infographic


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.

Learn more about differential diagnoses

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  1. Brun L, et al. Neurology. 2010;75:64‒71.
  2. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
  3. Lee WT. Epilepsy & Seizure. 2010;3:147‒153.
  4. Swoboda KJ, et al. Ann Neurol. 2003;54(Suppl 6):S49‒S55.
  5. Pons R, et al. Neurology. 2004;62:1058‒1065.
  6. Himmelreich N, et al. Mol Genet Metab. 2019;127(1):12‒22. doi: 10.1016/j.ymgme.2019.03.009.


SE-AADC-0232 | March 2022

Welcome to AADC Awareness

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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