Isabel Calderon, Vice President of Congenital Hyperinsulinism International, reports on this very important new discovery:
Science magazine recently published the findings of a group of experts which contributes to the understanding of another rare form of hypoglycemia. The main authors, K. Hussain, B. Challis and N. Rocha have identified a genetic mutation in the serine/threonine kinase AKT2 as responsible for the disorder. As many of us know, congenital hyperinsulinism (HI) is characterized by the presence of low blood sugars, with low ketones and generally inappropriately high levels of insulin. With the AKT2 mutation disorder, insulin levels are low when hypoglycemia is occurring. It is not an inappropriate level of insulin which results in hypoglycemia. Dr. Khalid Hussain explains that “the body thinks there is too much insulin when in fact there is normal insulin around,” so it responds by storing the sugar in circulation while preventing it from moving into the blood stream. This results in severe and difficult to manage hypoglycemia. Moreover, the condition does not respond to the treatments we know of for congenital hyperinsulinism. For the moment, the only option for these patients is tube feeding to prevent hypoglycemia. The authors of this publication are hopeful that their finding will eventually lead to a medication which will treat this disorder. To read the abstract of the article or have access to the full version visit: http://www.sciencemag.org/content/early/2011/10/05/science.1210878.abstract?sid=0d8bcd7f-f9e3-45b8-938d-49541193401a
