Glucose 6 phosphate dehydrogenase g6pd deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain foods, drugs, infections or stress. This xlinked disorder is distributed globally and is caused by. G6pd deficiency is an inherited disorder caused by a defect or deficiency in the production of that enzyme. Oxidative chemicals are made when some medicines are taken, when the body is exposed to some chemicals, or when the immune system is working hard to fight an infection. The g6pd gene provides instructions for making an enzyme called glucose6phosphate dehydrogenase. Aehh balcells 2125, bajos, local 1 08024 barcelona tfno 93 285 75 55. Causes of g6pd deficiency g6pd deficiency is an inherited disorder. Vlcad deficiency is a condition in which the body is unable to properly breakdown certain fats called very longchain fatty acids into energy, particularly during periods without food fasting. Glucose6phosphate dehydrogenase g6pd deficiency is the most prevalent enzymopathy in mankind. It occurs when a person is missing or has low levels of the enzyme glucose6phosphate dehydrogenase. The ideal pointofcare g6pd test would be fully quantitative, low cost, and easy to use.
It can cause haemolytic anaemia in any baby, not just those with g6pd deficiency, although the effect is more severe in babies with the condition. It plays a critical role in red blood cells, which carry oxygen from the lungs to tissues throughout the body. G6pd also helps protect red blood cells from oxidative stress. G6pd deficiency favism naphthalene is the chemical found in moth balls and moth flakes and toilet deodorant cakes.
In each of those subfolders are 4 to 5 pdf files and 1 jpg. Glucose6phosphate dehydrogenase g6pd deficiency is the most common enzyme deficit in humans. The associations brochure, in pdf format, which includes. The gene coding for g6pd enzyme is located on the x chromosome. G6pd glucose6 phosphate dehydrogenase hb haemoglobin hct haematocrit idd iodine deficiency disorders inacg international nutritional anaemia consultative group iq intelligence quotient nafe edta sodium ferric ethylenediaminetetraacetic acid jecfa joint faowho expert committee on food additives. Researchers believe that people who have a g6pd mutation may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. Files are available under licenses specified on their description page.
A test with these characteristics would enable a provider to accurately assess a patients g6pd status before prescribing 8aminoquinoline drugs for malaria treatment. A reduction in the amount of functional glucose6phosphate dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. Deficiencia b6 vitaminas nutrientes home nutrifacts. Rapid diagnostic test for g6pd deficiency in plasmodium. Glucose6phosphate dehydrogenase g6pd is an important element enzyme in the glucose oxidation oxygen utilization process of red blood cells rbcs and for maintaining their normal life span. Glucose6phosphate dehydrogenase deficiency genetics. Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar hypoglycemia, lack of energy. Rowshan, ddst omfs pgy2 resident, tamps residency associate professor, tripier anny medical center. For those unfamiliar with g6pd deficiency, the best place to start is with the. The files are placed in the same directories as the files. Volunteering to promote g6pd deficiency awareness in your country following our guidelines. Vlcad deficiency genetic and rare diseases information.
Pdf glucose6phosphate dehydrogenase g6pd deficiency. Infected individuals are treated with primaquine, which can induce haemolytic anaemia in glucose6phosphate dehydrogenase g6pddeficient individuals and may lead to severe and fatal complications. Glucosa 6 fosfato deshidrogenasa by dario alfonso rangel. Objectives haematological parameters differ between individuals of african and european ancestry. Drugs to avoid in g6pd deficiency definite risk of haemolysis possible risk of haemolysis pharmacological class drugs pharmacological class drugs. G6pd is an enzyme that catalyzes the first step in the pentose phosphate pathway. An estimated 400 million people worldwide carry a defective g6pd gene. Neonates should be screened for g6pd deficiency when family history, ethnic or geographic origin, or the timing of the appearance of neonatal jaundice suggests the possibility of. Neonates should be screened for g6pd deficiency when family history, ethnic or geographic origin, or the timing of the appearance of neonatal jaundice suggests the possibility of g6pd deficiency. Glucose6phosphate dehydrogenase deficiency g6pd is a public health problem which affects about 400 millions of people all over the world. This enzyme, which is active in virtually all types of cells, is involved in the normal processing of carbohydrates.
Glucose6phosphate dehydrogenase deficiency genetic and. Diagnosis and management of g6pd deficiency american. G6pd deficiency blood american society of hematology. A female who has a mutant g6pd gene on one of her x. Honolulu, ha\\w glucose6phosphatedehydrogenase g6pd deficiency is the mostcommonenzy. Plasmodium vivax parasites are the predominant cause of malaria infections in the brazilian amazon. This page was last edited on 6 october 2019, at 10.
Once installed it will allow you to convert any type of printable documents to pdf files. G6pd deficiency alleles in a malariaendemic region in the. For a list of these contraindicated substances, go to our. Naphthol niridazole stibophen nitrofurans nitrofurantoin nitrofurazone. The most important thing to learn is that certain drugs, foods and other substances. As males have only one x chromosome and thus one copy of g6pd gene, they would have g6pd deficiency if the g6pd gene carries a mutation. The batch processing funtions for your regular pdf needs. All structured data from the file and property namespaces is available under the creative commons cc0 license.
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