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The website is organised and funded by PTC Therapeutics for healthcare professionals in Middle East and Africa
Register now for our upcoming webinar
The website is organised and funded by PTC Therapeutics for healthcare professionals in Middle East and Africa
How to diagnose AADC deficiency?
Signs and symptoms of aromatic L-amino acid decarboxylase (AADC) deficiency can minic 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
Diagnosing AADC deficiency, Play the below video:
References: 1. Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64-71. 2. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12. doi:10.1186/s13023-016-0522-z. 3. Manegold C, Hoffmann GF, Degen I, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis. 2009;32(3):371-380. 4. Chen PW, et al. Clin Chim Acta. 2014;431:19-22. 5. Hwu W-L, Lee N-C, Chien Y-H, et al. AADC deficiency: occurring in humans, modeled in rodents. Adv Pharmacol. 2013;68:273-284. 6. Himmelreich N, Montioli R, Bertoldi M, et al. Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12-22. doi:10.1016/j.ymgme.2019.03.009. 7. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62(7):1058-1065.
AE-AADC-0267 | August 2022
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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.
