Скачать или смотреть AADC Deficiency Can Be Misdiagnosed as Cerebral Palsy or Epilepsy

Irina Anselm, MD, Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program at Boston Children's Hospital explains why aromatic L-amino acid decarboxylase (AADC) deficiency is often misdiagnosed for more common conditions, such as cerebral palsy or epilepsy.

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

As Dr. Anselm explains in this video, the lack of these neurotransmitters leads to a plethora of neurological and neuromuscular problems that can mimic other conditions. However closer inspection of the symptoms and tests can easily differentiate AADC deficiency from these other conditions.

For more information about AADC deficiency, visit https://checkrare.com/aromatic-l-amin...