The B-vitamins comprise a group of eight water soluble vitamins that perform essential, closely inter-related roles in cellular functioning, acting as co-enzymes in a vast array of catabolic and anabolic enzymatic reactions. Scant regard has been paid to the other B vitamins.
Pathophysiology[ edit ] Glucosephosphate dehydrogenase G6PD is an enzyme in the pentose phosphate pathway see image, also known as the HMP shunt pathway. The NADPH in turn maintains the supply of reduced glutathione in the cells that is used to mop up free radicals that cause oxidative damage.
People with G6PD deficiency are therefore at risk of hemolytic anemia in states of oxidative stress. Oxidative stress can result from infection and from Phosphate dehydrogenase deficiency disease essay exposure to medication and certain foods.
Broad beanse. Damaged red cells are phagocytosed and sequestered taken out of circulation in the spleen.
The hemoglobin is metabolized to bilirubin causing jaundice at high concentrations. The red cells rarely disintegrate in the circulation, so hemoglobin is rarely excreted directly by the kidneybut this can occur in severe cases, causing acute renal failure.
Deficiency of G6PD in the alternative pathway causes the buildup of glucose and thus there is an increase of advanced glycation endproducts AGE. The high prevalence of diabetes mellitus type 2 and hypertension in Afro-Caribbeans in the West could be directly related to the incidence of G6PD deficiency in those populations.
Diagnosis[ edit ] The diagnosis is generally suspected when patients from certain ethnic groups see epidemiology develop anemiajaundice and symptoms of hemolysis after challenges from any of the above causes, especially when there is a positive family history.
Generally, tests will include: When the blood spot does not fluoresce, the test is positive; it can be falsely negative in patients who are actively hemolysing.
It can therefore only be done 2—3 weeks after a hemolytic episode. When a macrophage in the spleen identifies a RBC with a Heinz body, it removes the precipitate and a small piece of the membrane, leading to characteristic " bite cells ". However, if a large number of Heinz bodies are produced, as in the case of G6PD deficiency, some Heinz bodies will nonetheless be visible when viewing RBCs that have been stained with crystal violet.
This easy and inexpensive test can lead to an initial presumption of G6PD deficiency, which can be confirmed with the other tests.
Classification[ edit ] The World Health Organization classifies G6PD genetic variants into five classes, the first three of which are deficiency states. Non-deficient variant, no clinical sequelae Class V: Increased enzyme activity, no clinical sequelae Differential diagnosis[ edit ] 6-phosphogluconate dehydrogenase 6PGD deficiency has similar symptoms and is often mistaken for G6PD deficiency, as the affected enzyme is within the same pathway, however these diseases are not linked and can be found within the same person.
Treatment[ edit ] The most important measure is prevention — avoidance of the drugs and foods that cause hemolysis. Vaccination against some common pathogens e. Those affected should avoid drugs such as aspirin. Some patients may benefit from removal of the spleen splenectomy as this is an important site of red cell destruction.
Folic acid should be used in any disorder featuring a high red cell turnover. Although vitamin E and selenium have antioxidant properties, their use does not decrease the severity of G6PD deficiency.
Prognosis[ edit ] G6PD-deficient individuals do not appear to acquire any illnesses more frequently than other people, and may have less risk than other people for acquiring ischemic heart disease and cerebrovascular disease.
Human genetic resistance to malaria G6PD deficiency is the second most common human enzyme defect after ALDH2 deficiency, being present in more than million people worldwide. A similar relationship exists between malaria and sickle-cell disease.
One theory to explain this is that cells infected with the Plasmodium parasite are cleared more rapidly by the spleen. This phenomenon might give G6PD deficiency carriers an evolutionary advantage by increasing their fitness in malarial endemic environments.
In vitro studies have shown that the Plasmodium falciparum is very sensitive to oxidative damage. This is the basis for another theory, that is that the genetic defect confers resistance due to the fact that the G6PD-deficient host has a higher level of oxidative agents that, while generally tolerable by the host, are deadly to the parasite.
When some prisoners were given the drug primaquine, some developed hemolytic anemia but others did not. In spite of these results, the US military administered the drug widely during the Korean War to prevent the relapsing infection caused by Plasmodium vivax hypnozoites.Glucose 6-phosphate dehydrogenase deficiency, with over million cases, is the most prevalent enzyme defect worldwide.
Higher frequencies are recorded in Africa, Asia and the Mediterranean. It has also been observed that up to ten per cent of African American males have a moderate form of this deficiency.
General Discussion. Summary. Glucosephosphate dehydrogenase (G6PD) deficiency is a genetic metabolic abnormality caused by deficiency of . Beer mitigates some effects of copper deficiency in rats. Klevay LM, Moore RJ United States Department of Agriculture, Grand Forks Human Nutrition Research Center, ND Glucose 6‐phosphate dehydrogenase (G6PD) deficiency is the most common defect of red blood cells.
Although some different laboratory techniques or methods are employed for the biochemical screening, a strict relationship between biochemists, clinicians, and molecular biologists is necessary for a definitive diagnosis.
The B-vitamins comprise a group of eight water soluble vitamins that perform essential, closely inter-related roles in cellular functioning, acting as co-enzymes in a vast array of catabolic and anabolic enzymatic reactions. Their collective effects are particularly prevalent to numerous aspects of brain function, including energy production, DNA/RNA synthesis/repair, genomic and non-genomic.
Research Papers Articles and Research Papers in English: GlucosePhosphate Dehydrogenase Deficiency () - by Lucio Luzzatto and Vincenzo Poggi: offers a "state-of-the-art" report on this enzyme deficiency, including coverage of gene therapy and practical medical advice.