Question
What is the cause of glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency?
Answers
GPT-4o mini
Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is primarily caused by mutations in the G6PD gene located on the X chromosome. This gene encodes the G6PD enzyme, which plays a crucial role in the pentose phosphate pathway, particularly in the production of NADPH. NADPH is essential for maintaining the reduced state of glutathione in red blood cells, helping to protect them from oxidative stress.
G6PD deficiency is an X-linked recessive genetic disorder, which means it predominantly affects males, while females can be carriers or affected, depending on their genetic makeup. The deficiency can lead to hemolytic anemia, particularly in response to certain triggers such as infections, certain foods (like fava beans), and oxidative drugs (such as some antibiotics and antimalarials).
In summary, the primary cause of G6PD deficiency is genetic mutations in the G6PD gene, which lead to reduced or dysfunctional enzyme activity, resulting in increased vulnerability of red blood cells to oxidative stress.
G6PD deficiency is an X-linked recessive genetic disorder, which means it predominantly affects males, while females can be carriers or affected, depending on their genetic makeup. The deficiency can lead to hemolytic anemia, particularly in response to certain triggers such as infections, certain foods (like fava beans), and oxidative drugs (such as some antibiotics and antimalarials).
In summary, the primary cause of G6PD deficiency is genetic mutations in the G6PD gene, which lead to reduced or dysfunctional enzyme activity, resulting in increased vulnerability of red blood cells to oxidative stress.