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 rest of 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
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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