About Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

What is Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

Diazoxide-resistant focal 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 episodes of severe hypoglycemia due to excessive insulin release. Diazoxide is a medication used to treat this disorder, but it is not always effective in individuals with SUR1 deficiency.

What are the symptoms of Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

The symptoms of Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency include:

-Hypoglycemia
-Seizures
-Developmental delay
-Feeding difficulties
-Growth failure
-Lethargy
-Weakness
-Irritability
-Vomiting
-Diarrhea
-Dehydration
-Hypotonia
-Hypothermia
-Coma

What are the causes of Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

The causes of Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency are 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 a decrease in the ability of the body to regulate insulin secretion. This can lead to excessive insulin secretion, resulting in hyperinsulinism.

What are the treatments for Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

1. Octreotide: Octreotide is a somatostatin analogue that can be used to reduce insulin secretion in patients with diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency.

2. Glucagon: Glucagon can be used to reduce insulin secretion in patients with diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency.

3. Surgery: Surgery is the most effective treatment for diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency. The goal of surgery is to remove the affected tissue and restore normal insulin secretion.

4. Dietary Modification: Dietary modification can be used to reduce insulin secretion in patients with diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency. This includes reducing carbohydrates and increasing protein intake.

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What are the risk factors for Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

1. Genetic mutations in the ABCC8 gene, which encodes the SUR1 protein.
2. Family history of focal hyperinsulinism due to SUR1 deficiency.
3. Low birth weight.
4. Premature birth.
5. Low blood sugar levels at birth.
6. Abnormal glucose tolerance test results.
7. Abnormal insulin levels in the blood.
8. Abnormal C-peptide levels in the blood.
9. Abnormal proinsulin levels in the blood.
10. Abnormal pancreatic imaging.

Is there a cure/medications for Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

Yes, there are medications and treatments available for diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency. The primary treatment is to control the blood sugar levels with a combination of medications, including sulfonylureas, meglitinides, and insulin. Other treatments may include a low-carbohydrate diet, exercise, and surgery to remove the affected part of the pancreas.