Familial Hyperinsulism (ABCC8-Related)

Familial Hyperinsulism (FHI), also known as Congenital Hyperinsulinism, is a condition where the pancreas produces too much insulin, leading to dangerously low blood sugar levels (hypoglycemia). It is the most common cause of persistent hypoglycemia in infants and young children.

The ABCC8-related form is the most common genetic cause of familial hyperinsulism. The ABCC8 gene encodes a protein called the sulfonylurea receptor 1 (SUR1), which is part of the ATP-sensitive potassium channel in pancreatic beta cells. This channel normally regulates insulin release in response to blood glucose levels. When it malfunctions, insulin is released continuously regardless of blood sugar levels.

Symptoms typically appear in the newborn period or early infancy and include poor feeding, lethargy, irritability, seizures, and loss of consciousness due to hypoglycemia. If not promptly treated, severe hypoglycemia can lead to permanent brain damage. Some milder forms may present later in childhood with less severe symptoms.

The condition can be inherited in either autosomal dominant or autosomal recessive patterns, with recessive forms typically being more severe. Treatment may include frequent feedings, medications like diazoxide or octreotide, and in severe cases, surgical removal of part or all of the pancreas. Genetic testing helps determine the type of hyperinsulism and guide treatment decisions.

NutraHacker examines the following gene related to Familial Hyperinsulism:

• ABCC8

For more information about your own genetic profile as related to Familial Hyperinsulism, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.