One day I will walk, 

One day I will talk, 

TODAY I can smile. 

Aromatic L-Amino Acid Decarboxylase Deficiency (AADC) is a very rare genetic inborn error of metabolism which affects the biosynthesis and transport of dopamine and serotonin (two critical neurotransmitters in the brain). This enzyme deficiency interferes with the communication between cells in the nervous system and is crucial for overall development and motor function of the body.  The autosomal recessive inheritance is caused by a mutation in the DDC gene where L-dopa converts to Dopamine and 5HTP to Serotonin. Dopamine is a precursor to catecholamines, epinephrine and norepinephrine, thus the sympathetic, parasympathetic, and autonomic nervous systems are affected as well. Signs and symptoms can develop in early infancy and intensify over the first year of life. 
The following are some of the symptoms a child will present with:

• Poor feeding (poor coordination latching during feeding, reflux)
• Hypersalvation (drooling)
• Weak muscle tone (hypotonia)
• Ptosis (droopy eyelids)
• Developmental delay (lack of head control, inability to crawl, sit, poor speech, etc)
• Diaphoresis (excessive sweating )
• Abnormal posturing/dystonia (back arching, forced neck rotation, awkward arm and leg positions, decreased body movements/hypokinesia)
• Tremors (hands / legs / ankles shaking)
• Involuntary limb movements (athetosis)
• Oculogyric crisis (eye deviation up, down and side to side – eyes getting stuck in upward or crossed position)
• Irritability
• Sleep disturbance (poor sleep or excessive sleep) 
• Temperature instability
• Neurologic impairment
• Autonomic dysfunction
• Behavioral problems