Adenosine deaminasc deficiency is seen in the following –
**Core Concept:** Adenosine deaminase deficiency is a rare genetic disorder affecting the ability to break down adenosine, a nucleotide involved in various physiological processes. In people with this deficiency, adenosine accumulates and can cause immune system dysfunction, leading to severe combined immunodeficiency (SCID) in children.
**Why the Correct Answer is Right:** Adenosine deaminase deficiency is caused by mutations in the ADA gene, which encodes adenosine deaminase enzyme. This enzyme plays a crucial role in breaking down adenosine and deoxyadenosine monophosphate (dAMP) to inosine monophosphate (IMP) and ammonia. Without this enzyme, adenosine and dAMP accumulate, impairing immune system function, and leading to SCID.
**Why Each Wrong Option is Incorrect:**
A. **Immune system dysfunction** occurs in adenosine deaminase deficiency, but the disorder is caused by a deficiency in adenosine deaminase enzyme, not an overactive immune system.
B. **Adenosine accumulation** occurs in adenosine deaminase deficiency, but it is caused by the deficiency in the enzyme that breaks down adenosine, not increased production of adenosine.
C. **Enzyme deficiency** occurs in adenosine deaminase deficiency, matching the correct answer choice (D). However, it does not explain the specific enzyme involved (adenosine deaminase) or the cause of the deficiency (mutation in ADA gene).
D. **Adenosine deaminase enzyme overproduction** is the opposite of the correct answer, as adenosine deaminase deficiency is caused by a deficiency in this enzyme due to mutations in the ADA gene.
**Clinical Pearl:** Adenosine deaminase deficiency is an example of a primary immunodeficiency disorder. Early diagnosis and treatment are crucial to improve the prognosis and quality of life for affected individuals.
**Correct Answer:** C. Enzyme deficiency, which is caused by mutations in the ADA gene, leading to adenosine deaminase deficiency.