G6pd deficiency

G6PD Deficiency

G6PD Deficiency (pronounced: Gee-Six-Pee-Dee Deficiency) is a genetic disorder that primarily affects the red blood cells. The term "G6PD" stands for Glucose-6-Phosphate Dehydrogenase, an enzyme that plays a crucial role in the pentose phosphate pathway, a process that helps cells to function normally.

Etymology

The term "G6PD Deficiency" is derived from the name of the enzyme that is deficient in individuals with this condition. "Glucose" refers to a type of sugar that cells use for energy, "6-Phosphate" refers to the phosphate group that is attached to the 6th carbon atom of the glucose molecule, and "Dehydrogenase" refers to the type of enzyme that helps to remove hydrogen atoms during chemical reactions.

Symptoms

People with G6PD Deficiency may experience a variety of symptoms, including anemia, fatigue, rapid heart rate, shortness of breath, and yellowing of the skin or whites of the eyes (jaundice). These symptoms are typically triggered by certain medications, foods, or infections.

Causes

G6PD Deficiency is caused by mutations in the G6PD gene. This gene provides instructions for making the G6PD enzyme. When there is a mutation in this gene, the body produces a G6PD enzyme that is not functional or is less functional, leading to the symptoms of G6PD Deficiency.

Diagnosis

Diagnosis of G6PD Deficiency typically involves a blood test to measure the level of G6PD enzyme activity. Genetic testing may also be performed to identify mutations in the G6PD gene.

Treatment

There is currently no cure for G6PD Deficiency. Treatment typically involves avoiding triggers that can cause symptoms, such as certain medications and foods. In severe cases, a blood transfusion may be necessary.

Related Terms

• Anemia
• Jaundice
• Pentose phosphate pathway
• G6PD gene
• Red blood cells

External links

• Medical encyclopedia article on G6pd deficiency
• Wikipedia's article - G6pd deficiency

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