Glucose-6-phosphate dehydrogenase deficiency (G6PDD), which is the most common enzyme deficiency worldwide, is an inborn error of metabolism that predisposes to red blood cell breakdown. Most of the time, those who are affected have no symptoms. Following a specific trigger, symptoms such as yellowish skin, dark urine, shortness of breath, and feeling tired may develop. Complications can include anemia and newborn jaundice. Some people never have symptoms.It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells. This destruction of red blood cells is called hemolysis. Red blood cell breakdown may be triggered by infections, certain medication, stress, or foods such as fava beans. Depending on the specific mutation the severity of the condition may vary. Diagnosis is based on symptoms and supported by blood tests and genetic testing.Affected persons must avoid dietary triggers, notably fava beans. This can be difficult, as fava beans may be called "broad beans" and are used in many foods, whole or as flour. Falafel is probably the best known, but fava beans are also often used as filler in meatballs and other foods.
Other clinical examination can include grading of muscle weakness, which is done by asking the patient to stand from a seated position with their hands folded across their chest. Laboratory investigations include evaluating blood calcium and alkaline phosphatase, which are always increased in tertiary hyperparathyroidism. Other common results from laboratory investigations would include decreased vitamin D levels, elevated blood parathyroid hormone and hyperphosphatemia. Etiology
Hyperparathyroidism, in general, is caused by either tumorous growth in one or more parathyroid glands or a prolonged decrease in blood calcium levels or hypocalcaemia which in turn stimulates the production of parathyroid hormone release from the parathyroid gland. The parathyroid gland is located beside the thyroid gland in the neck, below and in front of the larynx and above the trachea. It is composed of four glands in total that monitor blood calcium levels via the calcium sensing receptors, a g-coupled protein receptor. The parathyroid glands main role is calcium homeostasis. Histologically, these glands are composed of chief cells and oxyphil cells with the chief cell primarily responsible for the storing and release of parathyroid hormone. These cells are arranged in a pseudo-follicular pattern similar to the thyroid follicles. Keratin staining is used to image the parathyroid hormone granules. Parathyroid hormone is responsible for the induction of increased calcium absorption in the gastrointestinal tract or gut and in the kidney. It also induces calcium and phosphate resorption from the bone by osteoclasts. Parathyroid hormone also plays a role in activating vitamin D from its pro form to its active form.