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The red flags listed above are important, especially delayed motor development and hypotonia/ hypertonia and structurally normal MRI/EEG. Consider differential diagnosis from CP, epilepsy, autism and mitochondrial diseases
Patients with AADC deficiency often show elevated plasma 3-OMD levels. Free 3-OMD dry blood spot testing is offered by PTC Therapeutics to help your diagnosis of patients with suspected AADC deficiency. Questions on testing for AADC deficiency can be directed to: [email protected].
Promptly refer to a pediatric neurologist or geneticist.
CP, cerebral palsy; EEG, electroencephalogram; MRI, magnetic resonance imaging; 3-OMD, 3-O-methyldopa.
1. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12(1):12; 2. Denver II Developmental Milestone Chart. Available at: https://www.ccmedical.org/forms/1428352937_171971. pdf (Accessed: March 2021); 3. Hwu WL, et al. JIMD Rep. 2018;40:1–6; 4. Lee HF, et al. Eur J Paediatr Neurol. 2009;13(2):135–140; 5. Himmelreich N, et al. Mol Genet Metab. 2019;127(1):12–22; 6. Chen PW, et al. Clin Chim Acta. 2014;431:19–22; 7. Brennenstuhl H, et al. J Inherit Metab Dis. 2020;43:602–610.
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.