Glucose-6-Phosphate Dehydrogenase (G6PD) is an enzyme known to be active in virtually all kinds of body cells. It is involved in the normal processing of carbohydrates, as utilized in glycolysis, to release energy. This enzyme plays a critical role in red blood cells by helping them function properly i.e. carry the oxygen from the lungs to the tissues of the rest of the body. It protects the erythrocytes from oxidative damage or premature destruction during normal biochemical events or when there is the generation of excess free oxygen radicals by anchoring the production of NADPH and glutathione. When the body lacks the G6PD enzyme, it is known as G6PD deficiency.
What Is G6PD Deficiency?
G6PD deficiency is a genetic hemoglobin disorder that can result in hemolytic anemia- a condition wherein the red blood cells break down at a faster rate than being formed. Its signs and symptoms include excessive tiredness, shortness of breath, and rapid heart palpitations. These can be seen only when the affected individuals are exposed to certain infections (such as GI or upper respiratory tract infections), foods (like fava beans), or medications (eg. sulphonamides and certain antimalarial drugs). In severe cases, the enzyme deficiency can lead to neonatal jaundice, kidney failure, and other life-threatening reactions.
Diagnosis or Follow-up Testing
Infants with G6PD deficiency generally appear normal at birth but soon the serious harmful effects of the enzyme deficiency can occur. However, the recognition of the triggers causing the G6PD deficiency in newborns through screening processes and their timely removal and proper management can help the symptoms to disappear soon. As a result, the child with G6PD deficiency can lead healthy lives.
Universal newborn screening for G6PD deficiency can be done either by primary DNA screening or enzyme analysis.
For diagnosis of the G6PD deficiency in the newborn, a pediatrician or healthcare provider first checks whether the patient is showing any signs and symptoms of the G6PD deficiency. If they are present, immediate treatment is suggested. A simple blood test may be done to visualize the red blood cells in the patient sample and know if the patient has a family history of G6PD deficiency, an unfamiliar form of anemia, or a family belonging to the area where the condition is very common.
If the result of newborn metabolic screening of the baby patient is found to be out-of-normal range, the doctor or the state screening program will suggest additional testing of the child. It is important to note that the out-of-normal range does not necessarily mean that the child is suffering from that condition. This range might even be because of a small initial blood sample or early performance of the test. But, that does not rule out the possibility of the baby having G6PD deficiency. A follow-up appointment for a confirmatory test which is a quantitative enzyme assay is then highly recommended. This testing must determine whether or not the newborn is having a G6PD deficiency by just checking the reduced amount of G6PD enzyme in the red blood cells. If there is any delay in such testing, the serious effects of the untreated deficiency can be seen in the child soon after birth.
Note:
About 400 million people across the globe have been affected by the G6PD enzyme deficiency with the majority of cases reported in men. Most frequently the patients are found to belong to certain parts of Africa, Asia, and the Mediterranean.
Labsystems Diagnostics Neonatal G6PD Test
The Neonatal G6PD test from Labsystems Diagnostics is an enzymatic technique for quantifying glucose-6-phosphate dehydrogenase activity in blood samples dried on filter paper, with fluorometric detection, and is designed for newborn screening for glucose-6-phosphate dehydrogenase insufficiency.
In the presence of glucose-6-phosphate, NADP+ is reduced by the enzyme glucose-6-phosphate dehydrogenase (G-6-PD), and the rate of production of NADPH is proportional to G-6-PD activity and is evaluated fluorometrically.
It is an enzymatic technique for quantifying glucose-6-phosphate dehydrogenase activity in dried blood spots using fluorometric detection.
Benefits Labsystems Diagnostics Neonatal G6PD Test
- Excellent reproducibility
- Superior agreement with high-quality external samples
- The assay takes about 30 minutes
- Excellent stability.