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
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- Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
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- Ng J, et al. Nat Rev Neurol. 2015;11(10):567–584.
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- 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