Keith Hyland, PhD, reviews diagnostic tests that can confirm an AADC deficiency diagnosis
Hyland: The consensus guidelines at the moment say that 1 test is not enough. And in reality, you should probably do 3. Normally the 3 tests that they are suggesting at the moment are the plasma enzyme assay, sequencing, and the spinal fluid analysis.
At the end of the day, if you get 3 of those or 2 or 3 of those tests showing positive you’re absolutely, definitely sure that that patient has AADC deficiency.