Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic disorder caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This disorder is characterized by excessive insulin production, resulting in hypoglycemia (low blood sugar). Symptoms of this disorder can include seizures, developmental delay, and failure to thrive. Treatment typically involves a combination of medications, dietary changes, and surgery.

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

-Hypoglycemia (low blood sugar)
-Poor feeding
-Irritability
-Sweating
-Tremors
-Seizures
-Lethargy
-Coma
-Developmental delay
-Failure to thrive
-Weight loss
-Dehydration
-Hypothermia

Autosomal recessive hyperinsulinism due to SUR1 deficiency is caused by mutations in the ABCC8 gene, which encodes the SUR1 protein. Mutations in this gene can lead to a decrease in the activity of the SUR1 protein, resulting in an increase in insulin secretion from the pancreas. This can lead to a condition known as hyperinsulinism, which is characterized by abnormally high levels of insulin in the blood.

1. Dietary therapy: Dietary therapy is the mainstay of treatment for autosomal recessive hyperinsulinism due to SUR1 deficiency. This involves a low-carbohydrate, high-fat diet, with frequent meals and snacks.

2. Medications: Medications such as diazoxide, octreotide, and somatostatin analogs can be used to reduce insulin secretion.

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

4. Glucose monitoring: Regular monitoring of blood glucose levels is important to ensure that the treatment is effective.

5. Genetic counseling: Genetic counseling is recommended for families affected by autosomal recessive hyperinsulinism due to SUR1 deficiency.

1. Family history of Autosomal recessive hyperinsulinism due to SUR1 deficiency
2. Consanguinity
3. Mutations in the ABCC8 gene
4. Mutations in the KCNJ11 gene
5. Low birth weight
6. Low blood sugar levels
7. High levels of insulin in the blood
8. Abnormal glucose tolerance test results
9. Abnormal liver function tests
10. Abnormal kidney function tests

Yes, there is a cure for autosomal recessive hyperinsulinism due to SUR1 deficiency. The treatment involves a combination of medications, dietary changes, and surgery. Medications used to treat this condition include diazoxide, octreotide, and somatostatin analogs. Dietary changes involve reducing the amount of carbohydrates in the diet and increasing the amount of protein and fat. Surgery may be necessary to remove the affected portion of the pancreas.