Learn About AADC Deficiency - Intended for Health Care Professionals - PTC Therapeutics

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, devastating genetic disorder affecting cells of the central nervous system.

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References:
1. Helman G, Pappa MB, Pearl PL. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014;17:23-7.
2. 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):371-80.
3. Ren LQ, Chen M, Hultborn H, Guo S, Zhang Y, Zhang M. Heterogenic Distribution of Aromatic L-Amino Acid Decarboxylase Neurons in the Rat Spinal Cord. Front Integr Neurosci. 2017;11:31.
4. 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.
5. Hyland K, Reott M. Prevalence of aromatic l-amino acid decarboxylase deficiency in at-risk populations. Pediatr. Neurol. 2019. In press.
6. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62(7):1058-65.
7. Tsuchiya H. Neonatal Temperament: From Phenomenology to Mechanism. International Encyclopedia of the Social & Behavioral Sciences, 2nd edition. 2015;16:493-500.
8. Beaulieu JM, Gainetdinov RR. The physiology, signaling, and pharmacology of dopamine receptors. Pharmacol Rev. 2011;63(1):182-217.
9. Brennenstuhl H, Kohlmüller D, Gramer G, et al. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. J Inherit Metab Dis. 2019. In press.
10. Chien YH, Chen PW, Lee NC, et al. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. Mol Genet Metab. 2016;118(4):259-63.
11. Ho SY, Chien YH, Tsai LK, et al. Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency. Front Cell Neurosci. 2019;13:9.
12. Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperl, C, et al. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Molecular Genetics and Metabolism. 2019;127:12-22.
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