Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, inherited neurotransmitter disorder and a lifelong condition. It results in severe motor and autonomic dysfunction, developmental delay and premature death.1-5
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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.
AE-AADC-0267 | August 2022
