familial hyperinsulinemic hypoglycemia 3

Familial hyperinsulinemic hypoglycemia 3 (HHF3) is a rare genetic disorder characterized by excessive insulin secretion in response to low blood glucose levels [2]. This condition leads to recurrent episodes of hypoglycemia, which can result in loss of consciousness and even coma if left untreated [1].

The clinical features of HHF3 include:

• Loss of consciousness due to hypoglycemia
• Hypoglycemic coma
• Mental retardation due to repeated episodes of hypoglycemia

HHF3 is caused by a heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7p13 [2]. This genetic defect leads to an abnormal regulation of insulin secretion, resulting in excessive insulin release in response to low blood glucose levels.

In contrast to other forms of hyperinsulinemic hypoglycemia, HHF3 is characterized by autosomal dominant inheritance and a reduced threshold for insulin release [8][9].

It's worth noting that HHF3 is a very rare disease with heterogeneous clinical manifestations, and there are only a few reports in the medical literature [5].

Signs and Symptoms of Familial Hyperinsulinemic Hypoglycemia

Familial Hyperinsulinemic Hypoglycemia (FHH) is a rare disease characterized by excessive insulin secretion from pancreatic β-cells. The signs and symptoms of FHH can be non-specific during the neonatal period, making its diagnosis challenging.

• Poor feeding: Infants with FHH may exhibit poor feeding habits, which can lead to lethargy and irritability.
• Jitteriness: Jitteriness is another common symptom in newborns and infants with FHH.
• Irritability: Irritability is a frequent sign of FHH, especially during the

Diagnostic Tests for Familial Hyperinsulinemic Hypoglycemia 3 (HHF3)

Familial hyperinsulinemic hypoglycemia 3 (HHF3) is a rare genetic disorder characterized by severe hypoglycemia due to excessive insulin secretion. Accurate diagnosis of HHF3 is crucial for appropriate management and treatment. Here are the diagnostic tests that can help confirm the condition:

• Genetic Testing: Genetic testing of the GCK gene, which is associated with HHF3, can confirm a diagnosis [5]. This test involves targeted mutation analysis, Sanger sequencing, or other genetic testing methods to identify mutations in the GCK gene.
• Clinical Genetic Test: A clinical genetic test offered by Genetic Services Laboratory for conditions such as HHF3 can also be used to diagnose this condition [1].
• Glucose Infusion Rate Test: An intravenous glucose infusion rate of >8 mg/kg/min is virtually diagnostic of HHF3, especially in more severe cases [2]. However, milder forms may require additional testing.
• Laboratory Findings: Laboratory findings at the time of hypoglycemia, such as low blood sugar levels and high insulin levels, can also support a diagnosis of HHF3 [4].
• Glucagon Stimulation Test: A glucagon stimulation test can be used to assess the body's response to glucagon, which can help confirm a diagnosis of HHF3 [4].

It is essential to note that these diagnostic tests should only be performed by qualified healthcare professionals and in a clinical setting. If you suspect that you or your child may have HHF3, consult with a healthcare provider for proper evaluation and management.

References:

[1] Genetic Services Laboratory. Clinical Genetic Test. [2] Demirbilek H. (2017). Hyperinsulinemic hypoglycemia: A review of the literature. Journal of Pediatric Endocrinology and Metabolism, 34(3), 233-244. [4] Clues to diagnosis of hyperinsulinism. Laboratory findings at the time of hypoglycemia (BS). [5] Genetic Testing Registry: Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3.

Treatment Options for Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia (HH) is a rare genetic disorder characterized by excessive insulin secretion, leading to severe and recurrent episodes of hypoglycemia. The primary goal of treatment is to control blood glucose levels and prevent complications.

First-Line Treatment: Diazoxide

Diazoxide is the first-line treatment for persistent HH and has been shown to be effective in controlling hypoglycemic episodes [3][8]. It works by binding to and opening the SUR1 subunit of the KATP channel, which reduces insulin secretion [3].

Other Medications Used in Treatment

In addition to diazoxide, other medications such as octreotide and nifedipine are also used in the long-term treatment of congenital hyperinsulinism (CHI) [4]. These medications can be effective in controlling

Based on the provided context, I will attempt to answer your question.

Differential Diagnosis of Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia (HH) is a rare genetic disorder characterized by inappropriate insulin secretion leading to severe and recurrent episodes of hypoglycemia. The differential diagnosis for HH includes various other causes of recurrent hypoglycemia, which can be broadly categorized into:

• Transient Neonatal Hyperinsulinism: This is a self-limiting condition that resolves within days to weeks after birth [1].
• Congenital Hyperinsulinism: This is the most frequent cause of severe and persistent hypoglycemia in newborn babies, infants, and children [7]. It is caused by genetic mutations leading to inappropriate insulin secretion by pancreatic β-cells.
• Other Causes of Recurrent Hypoglycemia: These include conditions such as glycogen storage diseases, mitochondrial disorders, and other rare metabolic disorders.

Key Points

• HH is a rare genetic disorder characterized by inappropriate insulin secretion leading to severe and recurrent episodes of hypoglycemia [4].
• The differential diagnosis for HH includes various other causes of recurrent hypoglycemia, including transient neonatal hyperinsulinism and congenital hyperinsulinism [6].
• Congenital hyperinsulinism is the most frequent cause of severe and persistent hypoglycemia in newborn babies, infants, and children [7].

References

[1] Context 1: Table 3. [4] Context 4 [6] Context 6 [7] Context 7