Anesthesia and AADC Deficiency

Anesthesia and AADC Deficiency
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Medical procedures and tests sometimes require anesthesia, which can be especially challenging for patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disease characterized by reduced activity of the AADC enzyme. When there isn’t enough functional AADC enzyme, the body cannot make enough serotonin and dopamine neurotransmitters, which are crucial for signaling between nerve cells.

What is anesthesia?

Used by doctors to reduce pain during medical procedures, anesthesia interferes with nerve signals so that they cannot transmit pain signals to the brain. Some types of anesthesia induce unconsciousness so that patients sleep during procedures. Everyone reacts differently to anesthesia. In conditions like AADC deficiency, which interfere with nerve cell signaling, special monitoring of patients under anesthesia is necessary to ensure that nerve signaling is not suppressed too much.

When might AADC deficiency patients need anesthesia?

AADC deficiency patients may be nonverbal and have trouble conveying when they are in pain. The mental and physical developmental delays associated with the disease can make it difficult for patients to communicate their needs to parents, caregivers, and their healthcare team. Patients may, therefore, need to be sedated even during routine procedures, such as MRI scans, to minimize their distress.

What are potential complications of anesthesia?

In patients with AADC deficiency, anesthesia can cause low blood pressure and slow heartbeat or bradycardia, both of which can be dangerous. Blood sugar may drop, and patients may have trouble staying warm enough during procedures. Close monitoring of AADC deficiency patients under anesthesia is important so that doctors can treat problems that may occur as quickly as possible.

Case studies suggest that procedures requiring anesthesia can be handled successfully in young patients with AADC deficiency if sufficient care is taken by the anesthesia team.

 

Last updated: May 20, 2020

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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.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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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.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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