Familial Hyperinsulinism causes the pancreas to overproduce insulin, resulting in severe low blood sugar (hypoglycemia). Symptoms in infants include seizures, poor muscle tone, poor feeding, and breathing difficulty. If left untreated, the disease is fatal.
Treatments include glucose infusions and drugs that reduce insulin release. In some cases, it is necessary to surgically remove most of the pancreas.
Approximately 1 in 100 Ashkenazi Jews is a carrier of Familian Hyperinsulinism. Screening for two mutations will detect 90% of carriers in this population.