G6PDH

Glucose-6-phosphate dehydrogenase, often abbreviated as G6PDH or simply G6PD, is an enzyme that plays a crucial role in the pentose phosphate pathway. This metabolic pathway is essential for all living cells and has two primary functions: to produce NADPH and to generate pentose sugars. G6PDH catalyzes the first rate-limiting step of this pathway, the oxidation of glucose-6-phosphate to 6-phosphoglucono-delta-lactone.

The NADPH produced by the pentose phosphate pathway is vital for protecting cells from oxidative stress. It acts as a reducing agent, helping to maintain the reduced state of glutathione, which is then used by glutathione reductase to detoxify reactive oxygen species. Without sufficient NADPH, cells become more vulnerable to damage from free radicals.

Genetic deficiencies in G6PD are the most common human enzyme deficiency, affecting hundreds of millions of people worldwide. These deficiencies are X-linked, meaning they primarily affect males. Individuals with G6PD deficiency can experience hemolytic anemia, a condition where red blood cells are destroyed faster than they can be produced. This can be triggered by certain foods, drugs, or infections that increase oxidative stress. The severity of symptoms varies greatly depending on the specific genetic mutation and the level of enzyme activity. Diagnosis typically involves a blood test to measure G6PD enzyme levels.