Adenosine deaminase deficiency is a genetic disorder caused by mutations in the ADA gene, which encodes the enzyme adenosine deaminase. This enzyme is crucial for the conversion of adenosine to inosine, and its deficiency leads to the accumulation of toxic levels of adenosine, particularly affecting lymphocytes. The molecular structure of the ADA enzyme consists of a homodimeric protein with a central catalytic site that interacts with adenosine. Defective ADA results in impaired immune function and can lead to severe combined immunodeficiency (SCID).
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