Q.ADA is an enzyme which is deficient in a genetic disorder SCID. What is the full form of ADA?
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Start your 14-day free trial to unlock the full solution →ADA stands for Adenosine deaminase, the enzyme whose deficiency causes a form of Severe Combined Immunodeficiency (SCID).
The question connects a critical enzyme to one of the most well-known genetic disorders treated through gene therapy. SCID, or Severe Combined Immunodeficiency, is a group of inherited disorders that severely compromise the immune system, leaving affected individuals vulnerable to repeated and life-threatening infections. Among the various forms of SCID, one particular type arises from a deficiency of the enzyme ADA.
Adenosine deaminase is an enzyme involved in purine metabolism—the biochemical pathway that breaks down purine nucleotides. When ADA is absent or deficient, toxic metabolites accumulate in the body, particularly affecting lymphocytes (the white blood cells crucial for immune function). The buildup of these toxic substances, especially deoxyadenosine, is lethal to T-cells and B-cells, which are the backbone of the adaptive immune response. Without functional lymphocytes, children born with ADA deficiency have virtually no immune defense.
ADA-SCID became historically significant as the first human disease to be treated with gene therapy. In 1990, a four-year-old girl received functional ADA genes introduced into her lymphocytes, marking a milestone in medical science. …
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