G6PD Full Form

The G6PD gene instructs the production of a glucose-6-phosphate dehydrogenase enzyme. This enzyme is involved in the correct digestion of carbohydrates and is found in almost all types of cells. Red blood cells need to transport oxygen from the lungs to all body tissues. This enzyme aids in the protection of red blood cells from injury and premature death.

G6PD Full Form

G6PD means Glucose-6-phosphate dehydrogenase. The cytosolic enzyme glucose-6-phosphate dehydrogenase (G6PDH) catalyses the chemical reaction. This enzyme is involved in the pentose phosphate pathway. This metabolic route reduces energy to cells (such as erythrocytes) by keeping the co-enzyme nicotinamide adenine dinucleotide phosphate at a constant level (NADPH). NADPH helps protect red blood cells from oxidative damage caused by chemicals like hydrogen peroxide by maintaining glutathione levels in these cells. However, the generation of NADPH in organs involved in manufacturing fatty acids or isoprenoids, such as the liver, mammary glands, adipose tissue, and the adrenal glands, is enormous quantitative relevance. While oxidising glucose-6-phosphate, G6PD converts NADP+ to NADPH. The Entner–Doudoroff route, a form of glycolysis, contains glucose-6-phosphate dehydrogenase.

Glucose-6-Phosphate Dehydrogenase Deficiency

G6PD deficiency has been documented in up to 400 distinct genetic variations, with 186 of them having a recognised mutation. Variants are defined by the World Health Organization (WHO) based on residual enzyme activity and illness severity. Class I variations are the most severe, with continuous haemolysis occurring without any triggering stimulus. Variations in classes II and III have a severe enzyme deficit but no chronic haemolysis; variants in class IV have regular enzyme activity, and variants in class V have enhanced enzyme activity. G6PD Mediterranean, G6PD A-, and G6PD Mahidol are three variations whose clinical effects have been well-studied.

Causes

A change (mutation) in the G6PD gene causes G6PD deficiency. Genes give instructions for making proteins, essential for many bodily processes. The protein output may be defective, inefficient, or missing when a gene is mutated. This can influence a variety of organ systems in the body, depending on the activities of the specific protein. The gene mutation and resulting enzyme deficit are not enough to induce symptoms in patients with G6PD deficiency. Instead, the emergence of symptoms is dependent on the interaction of a mutation in the G6PD gene with a specific environmental condition.

Symptoms

Neonatal jaundice is one of the most prevalent disorders needing medical treatment in infants, and G6PD deficiency can cause it. In addition, the presence of too much bilirubin in the blood causes jaundice. Bilirubin is an orange-yellow bile pigment produced when haemoglobin in red blood cells breaks down naturally. If left untreated, neonatal jaundice can lead to neurological problems, including kernicterus, a disorder marked by the buildup of dangerous quantities of bilirubin in the brain, which causes fatigue, poor feeding, fever and vomiting in certain people.

Diagnosis

A diagnosis is made based on sure physical signs and symptoms, a complete clinical examination, patient history, and specialised testing. For example, if a person has symptoms, such as blood in their urine, recalls eating fava beans spontaneously, and comes from an area or group where G6PD deficiency is frequent, suspicion of the illness should be high. Doctors will perform several blood tests to establish a diagnosis and rule out other diseases that cause similar symptoms if they believe a person is G6PD deficient. The diagnosis is made by demonstrating reduced G6PD enzyme activity using a quantitative assay or a screening test like the fluorescent spot test. Molecular genetic testing can reveal mutations in the gene that causes G6PD, but it’s only offered as a diagnostic service at specialised labs.

Therapies

The majority of those impacted do not require therapy. Preventative interventions are frequently the best way to deal with G6PD deficiency. Before using certain antibiotics, antimalarials, or other treatments are known to cause hemolysis in G6PD-deficient people; people should be tested for G6PD deficiency. Hemolytic anaemia from fava beans or recognised medicines should not arise in G6PD-deficient patients since exposure may be avoided. If an episode of hemolytic anaemia is caused by using a specific treatment, it should be stopped under the guidance of a physician. If an underlying infection causes the outbreak, the condition should be treated as soon as possible.

Conclusion

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary metabolic disorder caused by a lack of the G6PD enzyme. This enzyme is necessary for red blood cell activity; if the amount of this enzyme is too low, red blood cells will break down prematurely (haemolysis).