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Adenosine is a key factor in regulating the body's sleep-wake cycle. [39] Adenosine levels rise during periods of wakefulness and lowers during sleep. Higher adenosine levels correlate with a stronger feeling of sleepiness, also known as sleep drive or sleep pressure. [40]
ADA2 catalyzes the reaction of adenosine to inosine and 2'deoxyadenosine in the blood. All DADA2 patients display less than 5% of the normal activity of ADA2 in blood samples, implicating the potential importance of this enzymatic role. [4] Adenosine levels are higher in patients than healthy individuals. [34]
Without myoadenylate deaminase, heavy activity causes adenosine to be released into the cell or perfused into the surrounding tissues. Fatigue and sedation after heavy exertion can be caused by excess adenosine in the cells which signals muscle fiber to feel fatigued. In the brain, excess adenosine decreases alertness and causes sleepiness.
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Adenosine deaminase (also known as adenosine aminohydrolase, or ADA) is an enzyme (EC 3.5.4.4) involved in purine metabolism. It is needed for the breakdown of adenosine from food and for the turnover of nucleic acids in tissues. Its primary function in humans is the development and maintenance of the immune system. [5]
Adenosine monophosphate (AMP), also known as 5'-adenylic acid, is a nucleotide. AMP consists of a phosphate group, the sugar ribose , and the nucleobase adenine . It is an ester of phosphoric acid and the nucleoside adenosine . [ 1 ]
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The enzyme adenosine deaminase is encoded by the ADA gene on chromosome 20. [1] ADA deficiency is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 20 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.