Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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vaccines, AADC deficiency

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare disease with about 100 people in the world diagnosed with it. Because the disease is so rare, it can be very difficult for patients and their families to connect with others and find out information about potential treatment options and current research.

Here are some frequently asked questions about AADC deficiency:

What is AADC deficiency?

AADC deficiency is a rare genetic disorder caused by the loss of an important enzyme. Without this enzyme, neurotransmitters or cell signaling molecules such as dopamine and serotonin cannot be made, which results in developmental delay, abnormal movement, and mental disability.

How do I know if my child has AADC deficiency?

For children with developmental delay and abnormal movement, physicians can perform a number of tests to confirm AADC deficiency. A spinal tap can be used to measure the amounts of neurotransmitters in the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). AADC enzyme activity can be measured in the blood, and genetic tests can be used to check for genetic mutations, which can cause AADC deficiency.

How prevalent is AADC deficiency?

AADC deficiency is a very rare disease. About 100 cases have been reported in the medical literature, with 20% of these cases located in Taiwan.

Is AADC deficiency contagious?

AADC deficiency is not contagious.

Can AADC deficiency be inherited?

AADC deficiency is a heritable disease. It is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the disease. A person with one copy of the mutation is unlikely to develop any symptoms of AADC deficiency and is called a carrier of the disease.


Last updated: July 29, 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.