Irina Anselm, MD, from Boston Children’s Hospital provides an overview of aromatic L-amino acid decarboxylase (AADC) deficiency.

AADC deficiency is a rare, genetic disorder caused by defect in the dopa decarboxylase (DDC) gene that leads to a reduction in the critical neurotransmitters such as dopamine, norepinephrine, epinephrine, and melatonin in the brain.

As Dr. Anselm explains in this video, the lack of these crucial neurotransmitters leads to a plethora of neurological and neuromuscular problems that are difficult to manage. Common symptoms include hypotonia, developmental delays, movement disorders, and numerous autonomic nervous system abnormalities. Sleep disturbances due to low melatonin levels are also common.

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