Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) also known as favism (after the fava bean) is an X-linked recessive inborn error of metabolism that predisposes to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness, or medication. It is particularly common in people of Mediterranean and African origin. The condition is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase, an enzyme involved in the pentose phosphate pathway that is especially important in the red blood cell. G6PD deficiency is the most common human enzyme defect. There is no specific treatment, other than avoiding known triggers. The symptoms are:
• prolonged neonatal jaundice, possibly leading to kernicterus (arguably the most serious complication of G6PD deficiency)
• Hemolytic crises in response to:
1. Illness (especially infections)
2. Certain drugs
3. Certain foods, most notably broad beans
4. Certain chemicals
• Diabetic ketoacidosis
• Very severe crises can cause acute kidney failure
HOW IS GLUCOSE 6-PHOSPHATE DEHYDROGENASE DEFICIENCY DIAGNOSED?
The condition goes undiagnosed until the child shows symptoms. With the symptoms, if the general physician suspects G6PD deficiency, he may recommend blood tests to rule out other causes of anaemia.
HOW IS GLUCOSE 6-PHOSPHATE DEHYDROGENASE DEFICIENCY TREATED?
Treatment involves discontinuing the impact of the trigger. The medications or antibiotics may have to be changed and the child may need hospitalization in case of extreme anaemia.
DID YOU KNOW?
There is usually no transfusion required in kids suffering from Glucose 6-Phosphate Dehydrogenase Deficiency unless the problem is extreme.