Familial Hyperinsulinism is characterized by hypoglycemia which can vary from mild to severe. It can be present in the immediate newborn period through the first year of life with symptoms such as seizures, poor muscle tone, poor feeding and sleep disorders. If left untreated, it can lead to irreversible neurological damage or death. In the more severe forms, dietary control only gives minimal improvement, and removal of the pancreas may be necessary.

Mutations in several genes have been associated with Familial Hyperinsulinism. Two founder mutations in the ABCC8 gene, located on chromosome number 11, have a carrier frequency of 1 in 66 in the