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PTC screening programme

Suspect AADC deficiency? Act now

  • 3-O-methyldopa (3-OMD) levels have been shown to be elevated in the blood, plasma and cerebrospinal fluid (CSF) of patients with aromatic L-amino acid decarboxylase (AADC) deficiency1,2* 
  • Initial screening with 3-OMD dry blood spot testing is one option to consider to aid an earlier diagnosis of AADC deficiency3–5† 

For more information on PTC Therapeutics screening programmes, please contact:

*3-OMD levels can also be raised in certain other neurotransmitter disorders, as well as in patients taking certain medications (e.g. carbidopa/levodopa).1
3-OMD dry blood spot testing alone is not sufficient to establish a diagnosis of AADC deficiency. If AADC deficiency is suspected, core diagnostic tests should be performed to confirm a diagnosis.

  1. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
  2. Brennenstuhl H, et al. J Inherit Metab Dis. 2020;43:602–610.
  3. Hyland K, Reott M. Pediatr Neurol. 2020;106:38–42.
  4. Chien YH, et al. Mol Genet Metab. 2016;118:259–263.
  5. Di Carlo E, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2021;doi:10.1016/j.jchromb.2021.122999.
GL-AADC-1147 | April 2022

Welcome to AADC Insights

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including AADC deficiency

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