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The website is organised and funded by PTC Therapeutics for healthcare professionals in Middle East and Africa

Suspect AADC deficiency? Act now
  • Tests to diagnose patients with AADC deficiency often show elevated plasma 3-OMD levels1-3
  • Earlier diagnosis may be achieved by dry blood spot testing for 3-OMD4,5
  • Free 3-OMD dry spot testing and reflex DDC gene sequencing is offered by PTC Therapeutics to help your diagnosis of patients with suspected AADC deficiency

References: 1. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12(1):12. doi:10.1186/s13023-016-0522-z. 2. Chen PW, et al. Clin Chim Acta. 2014;431:19-22. 3. Brennenstuhl H, et al. J Inherit Metab Dis. 2019;doi:10.1002/jimd.12208. 4. Hyland K, Reott M. Pediatr Neurol. 2020;106:38-42 5. Chien YH, et al. Mol Genet Metab. 2016;118(4):259-263. 6. Data on file. CENTOGENE AG. 2019

 

AE-AADC-0267 | August 2022

The website is organised and funded by PTC Therapeutics for healthcare professionals only

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Welcome to "About AADC MEA"

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.