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The website is organised and funded by PTC Therapeutics for healthcare professionals in Middle East and Africa

Symptoms Infographic
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. 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.
  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.
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AE-AADC-0267| August 2022

The website is organised and funded by PTC Therapeutics for healthcare professionals only

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Welcome to "About AADC MEA"

This website is provided for healthcare professionals residing in the Middle East and Africa.

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including Aromatic L-amino Acid Decarboxylase (AADC) deficiency.