ADEK deficiency is seen in: September 2007
**Core Concept**
ADEK deficiency refers to a condition characterized by a lack of adenosine triphosphate (ATP), deoxyadenosine (dAdo), and deoxyguanosine (dGuo) in the body. This deficiency is primarily associated with a genetic disorder that affects the enzyme adenosine deaminase (ADA), which plays a crucial role in the breakdown of these nucleosides.
**Why the Correct Answer is Right**
In individuals with ADA deficiency, the accumulation of dAdo and dGuo leads to the inhibition of DNA synthesis, resulting in a decrease in lymphocyte proliferation and function. This ultimately manifests as severe combined immunodeficiency (SCID), a condition where both T cells and B cells are significantly impaired. The ADA enzyme is essential for the proper functioning of the immune system, and its deficiency has severe consequences for individuals affected by this condition.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as ADA deficiency is not primarily associated with a deficiency in other enzymes or pathways.
**Option B:** This option is incorrect as ADA deficiency does not primarily manifest as a condition affecting the cardiovascular system.
**Option C:** This option is incorrect as ADA deficiency does not primarily manifest as a condition affecting the nervous system.
**Clinical Pearl / High-Yield Fact**
The ADA deficiency is a classic example of a genetic disorder that affects the immune system, highlighting the importance of the ADA enzyme in maintaining proper immune function.
**Correct Answer:** C. ADA deficiency is a genetic disorder that affects the enzyme adenosine deaminase (ADA), leading to severe combined immunodeficiency (SCID).