Severe Hypoglycemia Identified With Genetic Alterations

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This rare disorder which affects the population is a serious form of hypoglycemia. It was found out by the scientists that it could be linked to some alterations which are observed in the genes of the people who had this disease according to the journal Science.

Hypoglycemia is the clinical syndrome that results from low blood sugar. This can affect many people, but usually those who have diabetes frequently suffer from this condition. This condition is brought about by severe production of insulin by the beta cells of the pancreas, making glucose or the sugar in the blood enter the cell rapidly. As an effect, the blood is not able to supply major organs with glucose which serves as food to create energy. The symptoms of hypoglycemia can vary from person to person, as can the severity. The most critical symptom is when a person develops seizure and convulsions.

According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), hypoglycemia can happen suddenly. It is usually mild and can be treated quickly and easily by eating or drinking a small amount of glucose-rich food. If left untreated, hypoglycemia can get worse and cause confusion, clumsiness, or fainting. Severe hypoglycemia can lead to seizures, coma, and even death.

In adults and children older than 10 years, hypoglycemia is uncommon except as a side effect of diabetes treatment. Hypoglycemia can also result, however, from other medications or diseases, hormone or enzyme deficiencies, or tumors.

There could be many identified causes of hypoglycemia; this may include taking some medicines, drinking too much alcohol, metabolic problems and surgery. However, researchers say that this severe case of hypoglycemia has been found out with no detectable insulin in the bloodstream, and is identified to have a genetic cause. The main treatment for this condition today, is to insert a tube surgically into the front of the stomach of the patient; this is to facilitate feeding even during night time where there is a danger of dropping down the level of blood sugar because there is no food intake.

“Fear of low blood sugar has dominated the lives of these patients and their families, and for many years the lack of an obvious cause has added to their anxiety. Offering families an explanation for a rare disease is usually of great value to them in its own right, but in this case it is particularly exciting that our findings open the door for a new and specific treatment in the future.” Dr Robert Semple, Wellcome Trust Clinician Scientist at the Institute of Metabolic Science at the University of Cambridge said.

The scientists of the Institute of Metabolic Science and the Wellcome Trust Sanger Institute, together with clinical specialists in Cambridge have found out that there is a rare genetic alteration in the genetic code of the children who suffered from this rare condition. Scientists have traced this genetic alteration to the parents of these children, but they found none. An alteration in the AKT2 gene was established.

AKT2 plays a role in glucose metabolism and the development or maintenance of proper adipose tissue and islet mass. The new study is a key tool for the development of new pharmacological treatment to cure this rare disease.



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