Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological disease caused by mutations in a gene that encodes for a key enzyme. Without this enzyme, the nerve cells in the brain cannot make serotonin and dopamine, two important signaling molecules that they use to communicate with each other.

There is currently no cure for AADC deficiency, but there are treatments available to manage symptoms and improve patients’ quality of life. Working with a dietitian as part of the treatment team is also important for disease management.

What a dietitian does

Registered dietitians can work with patients and their parents or caregivers to design a meal plan that helps the patients get the nutrients they need. A balanced meal contains proteins, fats, carbohydrates, minerals, and vitamins. Patients with AADC deficiency may have specific nutritional needs that should be discussed with the treatment team.

For patients who have difficulty swallowing, a dietitian can suggest alternative foods or preparations that will be easier to manage.

For patients who are not able to eat normal amounts of food, a dietitian can suggest vitamins or supplements to ensure that they are not lacking important nutrients.

It is a good idea to keep a food diary that lists what the patient eats and when. This should include information about the type of food that the patient likes and foods that are challenging. This information can be discussed with the dietitian, who can suggest changes to the patient’s meal plan if necessary.

Mealtime strategies

For patients who have difficulty eating, there are some strategies that parents and caregivers can use to make mealtimes less stressful.

  • Giving the patient as much time as he or she needs is important in ensuring that mealtimes are not stressful. Because patients with AADC deficiency have muscle weakness, rushing them during mealtimes can increase the risk of choking.
  • Adhering to a mealtime routine allows the patient to know what to expect and can reduce stress.
  • Avoiding distractions, such as having the television or radio on during mealtime, can help the patient concentrate on the meal.
  • Mealtime is also a good time to work on posture and improve muscle strength.

 

Last updated: Sept. 11, 2019

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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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