Glucose-6-phosphate dehydrogenase deficiency

Definition

Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that affects the body’s ability to produce an important enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme plays a critical role in the pentose phosphate pathway, which helps protect red blood cells from damage caused by oxidative stress. Individuals with this deficiency are more susceptible to hemolytic anemia, especially when exposed to certain foods, infections, or medications.

5 Must Know Facts For Your Next Test

1. G6PD deficiency is one of the most common enzyme deficiencies worldwide, affecting millions of people, particularly males of African, Mediterranean, and Asian descent.
2. Symptoms of G6PD deficiency can be triggered by certain foods, such as fava beans, and specific medications like sulfonamides and some anti-malarials.
3. The deficiency can lead to acute hemolytic episodes, characterized by symptoms like jaundice, dark urine, fatigue, and shortness of breath.
4. Diagnosis typically involves a blood test to measure enzyme activity levels and identify the deficiency.
5. Management focuses on avoiding triggers that can lead to hemolysis and may include supportive care during episodes of anemia.

Review Questions

• How does glucose-6-phosphate dehydrogenase deficiency impact the body’s response to oxidative stress?
  • Individuals with glucose-6-phosphate dehydrogenase deficiency have reduced levels of G6PD, which impairs the pentose phosphate pathway. This pathway is crucial for generating NADPH, a molecule that helps protect cells from oxidative stress. As a result, when exposed to oxidative agents like certain drugs or infections, their red blood cells are more vulnerable to damage and may undergo hemolysis, leading to anemia.
• What dietary recommendations would you provide for someone with glucose-6-phosphate dehydrogenase deficiency to help manage their condition?
  • For individuals with glucose-6-phosphate dehydrogenase deficiency, it is essential to avoid certain foods and substances that could trigger hemolytic episodes. This includes avoiding fava beans and certain legumes, as well as being cautious with medications known to cause oxidative stress. A balanced diet rich in antioxidants from fruits and vegetables can help support overall health, while staying hydrated is also important for managing this condition.
• Evaluate the long-term management strategies for patients diagnosed with glucose-6-phosphate dehydrogenase deficiency and their implications for quality of life.
  • Long-term management of glucose-6-phosphate dehydrogenase deficiency involves educating patients about avoiding specific triggers that can lead to hemolytic anemia. Regular monitoring of health status and awareness of symptoms of anemia are crucial. By effectively managing their condition through dietary choices and lifestyle adjustments, patients can maintain a good quality of life. However, awareness of potential risks in situations like illness or exposure to certain medications remains essential for preventing complications.

Related terms

Hemolytic Anemia: A condition where red blood cells are destroyed faster than they can be made, leading to fatigue and other health issues.

Oxidative Stress:

An imbalance between free radicals and antioxidants in the body, which can cause cellular damage.

Pentose Phosphate Pathway: A metabolic pathway that generates NADPH and ribose 5-phosphate for nucleotide synthesis and is crucial for cellular metabolism.