We’re joined by Dr Heiko Brennenstuhl to explore how a definitive diagnosis of AADC deficiency can be achieved. In this podcast, he discusses the signs and symptoms that could suggest a neurotransmitter-related disorder, and the key diagnostic tests needed to confirm a diagnosis. Listen in to hear Dr Brennenstuhl outline the guideline-recommended diagnostic tests, the importance of genetic testing in reaching a definitive diagnosis, and the possibility of dried blood spot tests for new-born screening.

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