3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency
Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study suggests. This approach would be less invasive for patients, who often undergo multiple lumbar punctures before a final diagnosis, and could be used to screen for the disease in newborns.