Autosomal dominant hyperinsulinism due to SUR1 deficiency is a rare genetic disorder caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This mutation results in a decrease in the activity of the SUR1 protein, which is responsible for regulating the release of insulin from the pancreas. As a result, individuals with this disorder experience excessive production of insulin, leading to hypoglycemia (low blood sugar). Treatment typically involves a combination of medications, dietary changes, and surgery.

The symptoms of Autosomal dominant hyperinsulinism due to SUR1 deficiency include:

-Hypoglycemia (low blood sugar)
-Excessive hunger
-Sweating
-Shakiness
-Fatigue
-Confusion
-Irritability
-Headache
-Seizures
-Coma

Autosomal dominant hyperinsulinism due to SUR1 deficiency is caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This mutation results in a decrease in the activity of the SUR1 protein, which is responsible for regulating the release of insulin from the pancreas. This leads to an increase in insulin production, resulting in hyperinsulinism.

1. Dietary therapy: Dietary therapy is the mainstay of treatment for autosomal dominant hyperinsulinism due to SUR1 deficiency. This involves a low-carbohydrate, high-fat diet, which helps to reduce the amount of insulin released by the pancreas.

2. Medication: Medications such as diazoxide and octreotide can be used to reduce the amount of insulin released by the pancreas.

3. Surgery: Surgery may be recommended in some cases to remove the affected portion of the pancreas.

4. Pancreas transplant: In some cases, a pancreas transplant may be recommended to replace the affected portion of the pancreas.

1. Family history of autosomal dominant hyperinsulinism due to SUR1 deficiency
2. Mutation in the ABCC8 gene, which encodes the SUR1 protein
3. Being of Ashkenazi Jewish descent
4. Being female
5. Having a history of recurrent hypoglycemia

Yes, there is a cure for autosomal dominant hyperinsulinism due to SUR1 deficiency. The most common treatment is a medication called diazoxide, which helps to reduce the amount of insulin produced by the pancreas. Other medications, such as octreotide, can also be used to help control the symptoms of the condition. In some cases, surgery may be necessary to remove the part of the pancreas that is producing too much insulin.