Pathophysiology

The G6PD enzyme catalyzes the oxidation of glucose-6-phosphate to 6-phosphogluconate while concomitantly reducing the oxidized form of nicotinamide adenine dinucleotide phosphate (NADP+) to nicotinamide adenine dinucleotide phosphate (NADPH). NADPH, a required cofactor in many biosynthetic reactions, maintains glutathione in its reduced form. Reduced glutathione acts as a scavenger for dangerous oxidative metabolites in the cell. With the help of the enzyme glutathione peroxidase, reduced glutathione also converts harmful hydrogen peroxide to water. Red blood cells rely heavily upon glucose-6-phosphatase dehydrogenase (G6PD) activity because it is the only source of NADPH that protects the cells against oxidative stresses; therefore, people deficient in glucose-6-phosphatase dehydrogenase (G6PD) are not prescribed oxidative drugs, because their red blood cells undergo rapid hemolysis under this stress. The 5 classes of glucose-6-phosphatase dehydrogenase (G6PD) deficiency include low, normal, or increased levels of the enzyme.
G6PD deficiency is an inherited condition in which the body doesn't have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections. Most people with G6PD deficiency don't have any symptoms, while others develop symptoms of anemia only after RBCs have been destroyed, a condition called hemolysis. In these cases, the symptoms disappear once the cause, or trigger, is removed. In rare cases, G6PD deficiency leads to chronic anemia. With the right precautions, a child with G6PD deficiency can lead a healthy and active life.

About G6PD Deficiency
G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. G6PD also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications or when the body is fighting an infection. In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.

Causes of G6PD Deficiency
G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.

including Italians. meaning they can pass the gene for the deficiency to their children but do not have symptoms. Mothballs can be particularly harmful if a child accidentally swallows one. Why does G6PD deficiency occur more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. In more serious cases. Check with your doctor for more specific instructions. People of Mediterranean heritage. as well as a complete list of medications that could pose a problem for a child with G6PD deficiency. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PDdeficient cells. also are commonly affected. and Sephardic Jews. Greeks.G6PD deficiency is most common in African-American males. including: . Other substances can be harmful to kids with this condition when consumed — or even touched — such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Arabs. So they believe that the deficiency may have developed as a protection against malaria. G6PD Deficiency Symptom Triggers Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers. The severity of G6PD deficiency varies among these groups — it tends to be milder in African-Americans and more severe in people of Mediterranean descent. only a few are actually affected by G6PD deficiency. Symptoms of G6PD Deficiency A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no symptoms at all. so ANY contact should be avoided. such as bacterial and viral infections certain painkillers and fever-reducing drugs certain antibiotics (especially those that have "sulf" in their names) certain antimalarial drugs (especially those that have "quine" in their names) Some kids with G6PD deficiency can tolerate the medications in small amounts. a child may exhibit symptoms of hemolytic anemia (also known as a hemolytic crisis). which can be:     illness. Many African-American females are carriers of G6PD deficiency. others cannot take them at all.

However. In rare cases. If doctors suspect G6PD deficiency. active life.       paleness (in darker-skinned kids. if needed. If you feel that your child may be at risk because of either a family history or your ethnic background. Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger — that is. paleness is sometimes best seen in the mouth. blood tests usually are done to confirm the diagnosis and to rule out other possible causes of the anemia. As the body naturally makes new red blood cells. With the proper precautions. Diagnosis and Treatment In most cases. no medical treatment is usually needed. . the deficiency can lead to other more serious health problems. particularly in newborns an enlarged spleen dark. fluids. a transfusion of healthy blood cells. G6PD deficiency should not keep your child from living a healthy. the anemia will improve. typically within a few weeks. a child may need to be hospitalized for supportive medical care. a child with severe anemia may require treatment in the hospital to receive oxygen. cases of G6PD deficiency go undiagnosed until a child develops symptoms. If symptoms are mild. and. talk to your doctor about performing a screening with blood tests to check for G6PD deficiency. Caring for Your Child The best way to care for a child with G6PD deficiency is to limit exposure to the triggers of its symptoms. tea-colored urine Once the trigger is removed or resolved. or yellowing of the skin and eyes. If symptoms are more severe. the symptoms of G6PD deficiency usually disappear fairly quickly. treating the illness or infection or stopping the use of a certain drug. especially on the lips or tongue) extreme tiredness rapid heartbeat rapid breathing or shortness of breath jaundice.

This enzyme is a very powerful antioxidant. In the process of doing that another enzyme is produced called reduced glutathione. In all other cells except red blood cells (RBC) it isn’t critical as they have other means of protection. Infections. it is quite easy to control when you know how. you can learn how to prevent RBC’s from dying from it. This list also contains some other substances that are very harmful. Some viruses (flu. Some infectious diseases cause oxidative stress. Although it can be fatal under the right circumstances. The answer is not so simple. or not enough reduced glutathione to protect them. G6PD is an enzyme which has the main roll of helping cells convert carbohydrates into a form they can use. So learning how to prevent them is a very good idea. the cell membrane either bursts or is damaged because there is no. what is this oxidative stress and how do I prevent it. Drugs. Asian. If you can learn how to prevent oxidative stress. . Since those with G6PDD don’t have enough G6PD. you might ask. thus the main symptom of G6PDD is averted. colds) and some germ infections can cause it. When RBC’s are exposed to oxidative stress. however. that is the most important question you could ask.G6PD Deficiency is a genetic disorder found mostly in people of African. Keeping our immune systems healthy and doing other things to help prevent being exposed to these diseases is vital. There are many drugs that cause oxidative stress. they don’t produce enough reduced glutathione to protect cells from oxidative stress. The proper name for it is Glucose 6 Phosphate Dehydrogenase Deficiency. Some of them include naphthalene (moth balls). Middle Eastern and Mediterranean decent which can cause anemia under certain conditions. Good question. This genetic disorder is basically an anomaly of the gene on the X-chromosome that controls the production of G6PD in cells. In fact. But for RBC’s it is a deadly matter. blue food color and menthol (artificial mint flavor). We maintain a list of drugs to avoid on this website to help you make decisions about the medications you take. There are quite a few things that cause oxidative stress and they are in three main categories. Back in the 1950′s and 1960′s we called it Familial Congenital Nonspherocytic Hemolytic Anemia Glucose 6 Phosphate Dehydrogenase Deficiency. which is why it has a short name. And I had to memorize it so I could tell the doctor if I ever had to. So.

sometimes there are no symptoms at all. making it the most common inherited enzyme deficiency. . we make our own foods from scratch a lot. rapid breathing or shortness of breath.Foods. What Causes G6PD Deficiency? About 400 million people worldwide have G6PD deficiency. meaning that this condition usually occurs in boys. the symptoms of G6PD deficiency usually disappear fairly quickly. certain antibiotics. This list would be shorter if not for soy. Newborns may develop persistent and more serious jaundice as a result of G6PD. take certain medications like pain medicines. an enzyme present in red blood cells. This may occur when you have a fever. rapid heartbeat. your child may exhibit symptoms of anemia. including Italians. fatigue. Once the trigger is removed or resolved. What does it look like? If your child is exposed to a medication or infection that causes oxidative stress in his blood cells. lentils). they can destroy the red blood cells prematurely. or dark. jaundice( yellowing of the skin and eyes). Although the condition has been found in most groups of people. G6PD deficiency is inherited as an X-linked. So. In fact it is hard to find prepared foods without it. which can cause a type of anemia known as hemolytic anemia. recessive condition. Saul Greenberg What Is G6PD Deficiency? G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase. Arabs. Soy has made its way into our food supply in a big way. or when you are exposed to other specific substances. The condition tends to be milder in African Americans and more severe in people of Mediterranean descent. In more serious cases. peas. Greeks. an enlarged spleen. Red blood cells carry oxygen in the body and G6PD protects these cells from natural oxygen chemicals (oxidative substances) that may build up. and Sephardic Jews. including pallor. such as mothballs or fava beans. tea-colored urine . and drugs to treat malaria. This is the longest list as it contains all legumes (beans. typically within a few weeks. G6PD Deficiency by Dr. it is most common in AfricanAmerican males and people of Mediterranean heritage. If there are too many of these chemicals.

a blood smear. it is not known from birth that a child has G6PD deficiency. such as supportive care with oxygen and fluids. Septrin) Dapsone Chloramphenicol Nitrofurantoin Nalidixic acid Antimalarials Chloroquine Hydroxychloroquine Primaquine Quinine Mepacrine Chemicals . Additional blood tests are usually done as well to make sure there are no other possible causes of the anemia. You should always check with your doctor or pharmacist before taking any medication. until his red blood cells are exposed to oxidative stress and he develops symptoms of the disorder from the resulting anemia. These include a CBC. It is important to avoid the foods and drugs below. severe anemia may require treatment in the hospital. How is it treated? Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger .that is. If doctors suspect G6PD deficiency. and sometimes a transfusion of healthy blood cells. laboratory tests are ordered to help make the diagnosis. Be careful about using herbal.How is it diagnosed? In most cases. treating your child's illness or infection or discontinuing the use of a certain drug. However. naturopathic or other alternative complementary therapies. and special blood tests that directly measure G6PD activity or look for specific DNA.               Antibiotics Sulphonamides Co-trimoxazole (Bactrim.

also called broad beans Other drugs Aspirin Phenacitin Sulphasalazine Methyldopa Large doses of vitamin C Hydralazine Procainamide Quinidine Some anti-cancer drugs Click to return to home page .              Moth Balls (napthalene) Methylene blue Foods Fava beans .