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Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that causes red blood cells become damaged or destroyed if stimulated by certain medications or foods, some viral infections, or acidosis caused by diabetes. The G6PD enzyme is an important part of the metabolism of glucose into glutathione, which protects the red blood cells from being destroyed by free radicals. G6PD deficiency occurs more often in men than in women as it is an X-linked recessive hereditary disease.

Symptoms
  • Paleness or yellowish skin from the acute breakdown of red blood cells, listlessness, fever, and an unusually lengthy bout of neonatal jaundice in infants.
  • Dark yellow or black urine (tea- or cola-colored); in those with less urine, acute kidney failure may occur.
The most important treatment for a person with G6PD Deficiency is prevention and avoiding the foods and medications that can lead to the breakdown of red blood cells. The patient should also be vaccinated for common infectious diseases to prevent damage to the red blood cells from those infections. In cases of acute disintegration of red blood cells, a blood transfusion may be necessary.
 

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