Definition:
Glucose-6-phosphate dehydrogenase deficiency is a hereditary recessive x-linked enzyme defect. The disease is presented by abnormally low levels of the enzyme glucose-6-phosphate dehydrogenase. The enzyme is metabolic and is particularly significant to red blood cell metabolism. It is also associated to favism, a disease resulting in a hemolytic reaction due to the ingestion of fava beans.
Diagnosis:
When persons from the prone ethnic origins develop jaundice, anemia, and other signs of hemolysis, tests will be done including TSH measurement, liver enzymes, haptoglobin, CBC, and reticulocyte count.
Treatment:
For those who are prone to the disease, prevention is key. It helps to avoid the foods and drugs that may lead to hemolysis, as well as vaccination for pathogens. However if a drug is causing the condition, simply stopping the drug can treat the disease.
Symptoms and Signs:
Because of the x-linked nature of the disease, sufferers are almost always men. However, females may also be affected. Symptoms of glucose-6-phosphate dehydrogenase deficiency include jaundice, dark urine, paleness, fatigue, enlarged spleen, shortness of breath, rapid heart rate, and in severe cases, acute renal failure.
Hemolysis may also occur as a reaction to diabetic ketoacidosis, severe infection, antimalarial medication, medicines that contain phenacetin or aspirin, antibiotics, some antihelmintics, henna, and fava beans.
Causes:
Mutations in the glucose-6-phosphate dehydrogenase cause the disease. The disease affects certain ethnic groups, and is more common in black males in the United States, affecting about 13% of the population. Some black women are also affected by the disease, but this is dependent on their genetic make-up. Those of Middle Eastern origin, particularly the Kurds, and Sepharic Jewish origin are more at risk as well.
:
glucose6phosphatedehydrogenasedeficiency
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
