Adenosine deaminase is an enzyme involved in purine metabolism. It is used to breakdown adenosine to inosine for the turnover of nucleic acids for DNA synthesis and cell growth.
Adenosine deaminase deficiency leads to an accumulation of deoxyadenosine which leads to a buildup of ATP and dATP in cells.
High ATP, which normally activates RNR, leads to high dATP, which inactivates the enzyme ribonucleotide reductase, which is a key enzyme in DNA synthesis.
High ATP, which normally activates RNR, leads to high dATP. This inactivates the enzyme ribonucleotide reductase, which is a key enzyme in DNA synthesis. Thus, DNA synthesis is prevented.
Developing B cells and T cells are extremely mitotically active and thus largely affected by the disruption in DNA synthesis. Lack of B and T cells results in high susceptibility to viral, fungal and bacterial infections.
Adenosine deaminase deficiency accounts for about 15% of cases of severe combined immunodeficiency (SCID).
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