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: firstname.lastname@example.org
*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.
- Wassenberg T, et al. Orphanet J Rare Dis. 2017;12:12.
- Brennenstuhl H, et al. J Inherit Metab Dis. 2020;43:602–610.
- Hyland K, Reott M. Pediatr Neurol. 2020;106:38–42.
- Chien YH, et al. Mol Genet Metab. 2016;118:259–263.
- Di Carlo E, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2021;doi:10.1016/j.jchromb.2021.122999.