Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic condition caused by a mutation in the dopa decarboxylase (DDC) gene, which carries instructions to make the AADC enzyme. These mutations result in low or insufficient levels of the AADC enzyme being produced, causing symptoms that range from poor muscle tone and movement control to low blood pressure.

Erratic sleep patterns, difficulty falling asleep, and a lack of energy due to insufficient sleep are often traced to symptoms of AADC deficiency.

Causes of sleep disturbances

The brain communicates with the body through messenger molecules called neurotransmitters, which relay messages as electrical impulses sent from nerve endings. Serotonin and dopamine are two vital neurotransmitters. The AADC enzyme plays an essential role in the synthesis of these key neurotransmitters — so that people with AADC deficiency also have low levels of serotonin and dopamine.

Serotonin and dopamine also regulate the sleep-wake cycle. They are involved in the production of a hormone called melatonin, which regulates sleep upon exposure to light or darkness. Low levels of these two neurotransmitters in AADC deficiency blocks the production of melatonin. As a result, people with AADC deficiency commonly experience sleep disturbances.

Treatment and management of sleep disturbances

Melatonin supplements have been prescribed to AADC patients to alleviate sleep disturbances. But these should be used only with a doctor’s agreement after careful discussion.

Relaxation techniques, such as breathing exercises and meditation, help to relax the muscles and calm the body in ways that can ease sleep symptoms. These techniques should be used under the guidance of a sleep specialist, who can instruct the patient in adopting techniques best suited to the individual and in using them correctly.

Planning and maintaining a sleep schedule can also be helpful.

 

Last updated: Sept. 15, 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 healthcare providers 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.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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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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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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