The most common enzyme deficiency in the world is G6PD, or glucose-6-phosphate-dehydrogenase, and it affects 400 million people worldwide.
G6PD deficiency
A deficiency in G6PD, an enzyme that maintains the health of red blood cells (RBCs) and plays a crucial role in oxidizing processes, can result in the sudden destruction of red blood cells. G6PD is a genetic, X-linked, metabolic disorder that is primarily passed on to male children from mothers (females are typically healthy carriers of the gene defect).
There are more than 300 different forms of this genetic disorder, and depending on the specific genetic defect, the severity of the symptoms varies from person to person. G6PD is crucial for the production of glutathione, an antioxidant that is necessary for maintaining the integrity of the RBCs’ cell walls.
The oxygen-carrying protein in the blood, hemoglobin, picks up oxygen from the lungs, transports it to all of your cells throughout the body, and also picks up some of the carbon dioxide produced by your cells, carries it to the lungs where it is exhaled out. Hemoglobin is a key component of all red blood cells and gives them their red color.
When glutathione levels are very low, the hemoglobin in the RBCs is unable to bind with oxygen, which breaks down the cell wall and spills out all its contents. Cells need oxygen for their fundamental functions and to keep them alive, so without enough red blood cells to transport oxygen to your cells and carbon dioxide away from your cells, it is like literally suffocating every tissue and organ system in the body.
Symptoms of G6pd Deficiency
The majority of cases of G6PD are mild and asymptomatic; symptoms only appear after exposure to noxious substances, severe illness, or specific foods or medications (fava beans, sulpha drugs, and especially those with “-quine” at the end of their names).
When RBCs degrade quickly, symptoms start to manifest.
Some symptoms seen are:
- Fatigue
- Appearing very pale
- body temperature suddenly rising
- A headache
- Dizziness
- Rapid heartbeats
- Shortness of breath
- back or stomach discomfort
- Very dark red, reddish-brown, brownish, or tea-colored urine is what it looks like.
- Jaundice causes the skin and eyes to turn yellow.
- Spleen may be enlarged
- When the problematic food or drug is discontinued, the symptoms typically go away.
- Long-lasting jaundice can occur anywhere between days 1-4 after birth in infants with G6PD deficiencies.
Diagnosis
G6PD deficiency is suspected when any of the aforementioned symptoms appear in a member of an ethnic group that is predisposed to the condition. In children, the majority of cases go undiagnosed until the child experiences a health issue.
These are some lab tests that were requested:
Complete blood count: G6PD activity reveals the presence of protein aggregates called “Heinz bodies” inside of red blood cells.
To rule out additional causes of liver damage and jaundice, liver function tests are performed.
Since RBC breakdown is not an auto-immune condition, the Coomb’s Test is used to determine whether direct antiglobulin is present.
Reduced hemolysis (the breakdown of RBCs) causes haemoglobin.
Niacinamide adenine dinucleotide phosphate (NADP) is converted to its reduced form in RBCs, which forms the basis of the Beutler Fluorescent Spot Test, which is used to diagnose the deficiency.
Treatment of G6pd Deficiency :
Severely ill children may require hospitalization, oxygen support, and intravenous fluids, but for the majority of those affected, the only effective treatment for G6PD is to avoid the trigger.
The following substances and foods should be avoided.
Antibiotics, including sulfonamides, co-trimoxazole (Bactrim, Septrin), dapsone, chloramphenicol, nitrofurantoin, and nalidixic acid
Drugs used to treat malaria (Chloroquine, Hydroxychloroquine, Primaquine, Quinine, Mepacrine)
Chemicals (naphthalene, moth balls, and methylene blue)
Food (also referred to as broad beans, fava beans)
Other medications (including aspirin, phenacetin, sulphasalazine, methyldopa, high vitamin C doses, hydralazine, procainamide, quinidine, and some anti-cancer medications)
HOMOEOPATHIC TREATMENT FOR G6PD-Deficiency
The most prevalent enzyme deficiency in the world, G6PD-Deficiency, can cause both acute and chronic red blood cell breakdown, jaundice in newborns, and other symptoms like these. Because homoeopathy treats patients as a whole, the right medication must be chosen based on the patient’s full spectrum of symptoms.
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