Learn About AADC Deficiency

Could an underlying rare disorder be the cause of your child’s symptoms?

This website provides information about one rare disorder called Aromatic L-amino Acid Decarboxylase (AADC) deficiency, which can cause:

Involuntary eye movements (oculogyric crises)

Low muscle tone (hypotonia)

Delays in development

Multiple symptoms associated with bodily functions, such as excessive sweating, droopy eyelids, and a stuffy or runny nose

Symptoms that may become worse or more noticeable later in the day, and may improve with sleep

What best describes your AADC deficiency experience?

Learn about what AADC deficiency is

See signs and symptoms that may overlap with those of other conditions

Discover a no-cost testing option

What to expect after a diagnosis

Find additional sources of support

Sign up for more information

An important message to the AADC Community

Watch one family talk about their experience with AADC deficiency and the journey they took to get a diagnosis for their daughter.

“She’s an angel. We feel like we’ve been blessed with an angel, and Jillian’s got an amazing spirit.”

Kelly Heger, mother and caregiver of Jillian Heger