The website is organised and funded by PTC Therapeutics for healthcare professionals outside the US, UK and Ireland Visit Caregiver site

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: aadc.deficiency.info@ptcbio.com

*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

Generic selectors
Exact matches only
Search in title
Search in content