Kelly Heger, founder of the AADC Family Network explains why aromatic L-amino acid decarboxylase (AADC) deficiency can often be difficult to diagnose quickly.  

AADC deficiency is a rare, genetic disorder due to a defect in the dopa decarboxylase (DDC) gene that reduces the synthesis of dopamine, norepinephrine, epinephrine, and melatonin.

The lack of these neurotransmitters leads to a plethora of neurological and neuromuscular problems that can mimic other conditions and make it difficult to get properly diagnosed. 

As Ms. Heger explains in this video, her daughter was fortunate enough to meet one of the early pioneers of diagnosing AADC deficiency during an emergency visit to the Children’s hospital. During that visit, her daughter was diagnosed with AADC deficiency. Early symptoms can include low body temperature and hypotonia, which can be difficult to notice in an infant.

For more information about AADC deficiency, visit