Scientists have identified the genetic cause of a rare but potentially fatal form of hypoglycemia, opening the door for new treatment, according to a study published in the journal Science.
Hypoglycemia – low blood-sugar – is caused by an excess of insulin in the body; it often affects diabetics and other individuals with insulin-related disorders. Approximately one out of everyone 100,000 children, however, is born with a rare and life-threatening form of the condition, which, until now, has gone unexplained.
By comparing DNA samples of sufferers with those of their unaffected parents, researchers were able to trace the form of hypoglycemia back to a mutation in the AKT2 gene. Treatments can now be developed specifically to target this gene, providing new hope for sufferers, who have had few answers or options up until now.
"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," explained lead author Dr. Robert Semple.
"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."