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What is AADC Deficiency?

AADC deficiency is a rare genetic disorder that affects the brain, causes weak muscle tone, and affects how a child develops

Aromatic L-amino Acid Decarboxylase (AADC) deficiency is a disorder that interferes with the way the cells in the nervous system talk to each other through substances called neurotransmitters. In AADC deficiency, a genetic mutation (change within a gene) leads to a decrease in the amount of neurotransmitters made.

AADC deficiency can lead to a variety of symptoms.

The most common symptoms are:

  • Poor muscle tone or “hypotonia”
  • Delayed development
  • Unusual movements or movement disorders, especially involuntary eye movements

In most cases, symptoms are noticed when the child is still an infant, at about 2½ months old, on average.

AADC deficiency is extremely rare. Because it is so rare, and because the symptoms are similar to symptoms of other conditions, diagnosis can be difficult.

At this time there is no cure for AADC deficiency, but there are treatments that can help improve some of your child’s symptoms.

View a glossary of helpful terms you may encounter

Learn more about what AADC deficiency is as well as its signs and symptoms.