Genetic deficiencies of NADPH oxidase cause
**Core Concept**
Genetic deficiencies of NADPH oxidase lead to a condition characterized by recurrent life-threatening infections, particularly those caused by catalase-positive organisms. This is due to the inability of phagocytes to produce superoxide, a key component of the respiratory burst necessary for microbial killing.
**Why the Correct Answer is Right**
NADPH oxidase is a multisubunit enzyme complex that catalyzes the transfer of electrons from NADPH to oxygen, resulting in the production of superoxide (O2-). This process is crucial for the killing of ingested microorganisms by phagocytes, such as neutrophils and macrophages. The enzyme complex consists of two main components: the cytosolic components (p40phox, p47phox, and p67phox) and the transmembrane component (gp91phox). Genetic deficiencies in any of these subunits can lead to chronic granulomatous disease (CGD), a condition characterized by recurrent infections.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because it does not accurately describe the condition caused by genetic deficiencies of NADPH oxidase. While patients with CGD may experience gastrointestinal symptoms, it is not the primary manifestation of the disease.
* **Option B:** This option is incorrect because it is unrelated to the condition caused by genetic deficiencies of NADPH oxidase. Peroxisomal disorders are a group of genetic disorders that affect the peroxisome, an organelle involved in fatty acid oxidation and detoxification.
* **Option C:** This option is incorrect because it is not a direct consequence of genetic deficiencies of NADPH oxidase. While patients with CGD may experience an increased risk of certain types of cancer, it is not a primary manifestation of the disease.
**Clinical Pearl / High-Yield Fact**
Chronic granulomatous disease (CGD) is a rare genetic disorder that affects approximately 1 in 200,000 individuals. It is caused by mutations in any of the subunits of NADPH oxidase and is characterized by recurrent life-threatening infections, particularly those caused by catalase-positive organisms.
**Correct Answer:** D. Chronic granulomatous disease (CGD)