The Children's Hospital of Philadelphia
Unraveling the Mysteries of Hyperinsulinism - Introduction

Charles A. Stanley, MD: Hyperinsulinism, or HI, is the most common cause of hypoglycemia in young infants and newborns.

Andrea Kelly, NP: Hyperinsulinism is a rare genetic disorder that causes the pancreas to produce too much insulin.

Charles A. Stanley, MD: So insulin is being secreted all the time, even when the blood sugar is too low.

Andrea Kelly, NP: The beta cells in the pancreas are responsible for the insulin production.

Eduardo Ruchelli, MD: These specific cells that are specialized in the secretion of insulin lose the ability to respond to the levels of sugar in the normal manner.

Andrea Kelly, NP: The excess insulin in the body tricks the body to think that it doesn't need to pull the stored sugar from the liver, or break down the fat for fuel.

N. Scott Adzick, MD: That leads to severe hypoglycemia or low blood sugar. This can impair the baby's brain function and in some cases can be life threatening.

Andrea Kelly, NP: The incidence of hyperinsulinism is 1 in 50,000 and there are some ethnic backgrounds, like Ashkenazi Jewish, where it's actually a lot more common. It's 1 in 25,000.

N. Scott Adzick, MD: There are probably about 100 to 200 hyperinsulinism cases per year in the U.S.

Charles A. Stanley, MD: About a third of babies in the past with hyperinsulinism have some degree of developmental delay and mental retardation and we think that that's preventable with early diagnosis and rapid, effective treatment.

N. Scott Adzick, MD: The longer it takes until diagnosis and referral the higher likelihood that the child will have catastrophic consequences, including severe brain injury.