Aromatic L-amino acid decarboxylase (AADC) deficiency is caused by mutations in the DDC gene that lower the activity of the AADC enzyme. This enzyme plays an important role in producing neurotransmitters, or cell signaling molecules, in the brain such as dopamine and serotonin.  Their deficiency leads to problems in the transmission of signals between nerve cells, and poor communication between the brain and the rest of the body.

Early signs and symptoms 

The symptoms of AADC deficiency manifest within the first year of life, and lead to severe delays in children reaching developmental milestones like walking and talking. Other common symptoms include hypotonia or weak muscle tone, muscle stiffness, and athetosis (involuntary writhing movements of the limbs).

Babies with this disease often lack energy, feed and sleep poorly, and startle easily.

Oculogyric crises

A characteristic feature of AADC deficiency is an oculogyric crisis. These episodes may involve unusual rotation of the eyeballs, extreme irritability and agitation, pain, muscle spasms, and uncontrolled head and neck movement. They generally begin later in the day, when a patient is tired, and can last for hours.

Autonomic dysfunction

AADC deficiency also causes problems with the autonomic nervous system that regulates involuntary body functions like body temperature. Symptoms associated with autonomic dysfunction include droopy eyelids (ptosis), constricted pupils (miosis), excessive sweating, internal temperature instability, nasal congestion, hypersalivation, low blood pressure, reflux, fainting, low blood sugar, and, in extreme cases, cardiac arrest.

Movement disorders

Nearly 50% of AADC deficiency patients have movement disorders, such as decreased body movements (hypokinesia), unpredictable involuntary movements (chorea), involuntary muscle contractions that cause repetitive twisting (dystonia), and bulbar weakness that affects the tongue, larynx, pharynx, and respiratory muscles.

 

Last updated: Sept. 7, 2019

***

AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Total Posts: 0
Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.