Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in early infancy. 1 Affected children present with seizures or coma and are at high risk for permanent brain injury. Treatment consists of diazoxide, octreotide, or subtotal pancreatectomy. Evidence suggests that the majority of cases of congenital hyperinsulinism are caused by genetic defects in the regulation of insulin secretion by pancreatic beta cells. 2 In some children, recessively inherited mutations have been demonstrated in the gene for the plasma membrane sulfonylurea receptor ( SUR1 ) or its associated inwardly rectifying potassium channel ( Kir6.2 ) of the beta cells. 3 – 7 Other children . . .