Congenital hyperinsulinism starves a baby's brain of blood sugar and can lead to lifelong brain damage or permanent disability according to previous research. The condition occurs when specialised cells in the pancreas release too much insulin which causes frequent low sugar episodes - the clinical opposite of diabetes. Treatment includes drugs to reduce insulin release but in the most serious cases the pancreas is removed.
For some infants with this disease, the release of excess insulin is due to mutations in genes which govern the way our bodies control insulin release. But for more than two thirds of child patients the genetic causes are not yet known. Genes and hormones were analysed in 13 children with congenital hyperinsulinism and the findings have been published in The Journal of Pediatrics.
The new test measures a pair of hormones called incretins which are released by specialised cells in the gut when food is passing through. The hormones normally tell the cells in the pancreas to release more insulin to regulate sugar levels in our blood. If the child's body releases too much incretin hormones, the pancreas will release too much insulin causing dangerous low blood sugar levels.
A new diagnostic test for this devastating disease is welcome news to the international hyperinsulinism patient community because timely diagnosis is key to reducing the chance of brain damage and death, and the research also suggests a path to treatment other than sub-total pancreatectomy.