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What Do Results of Various Tests Mean in AADC Deficiency?

Various tests, particularly blood tests, are normally requested if a doctor suspects your child may have aromatic l-amino acid decarboxylase (AADC) deficiency. An initial test might look at blood levels of 3-O-methyldopa (3-OMD). If those levels are high, a test to determine levels of AADC enzyme activity in the blood may be necessary. If those are low, a genetic test will likely be ordered to confirm a diagnosis. Here is more information about each of…