familial hyperinsulinemic hypoglycemia 6

Familial hyperinsulinemic hypoglycemia 6 (HHF6) is a rare congenital disorder characterized by excessive insulin secretion, chronic hyperammonemia, and recurrent hypoglycemia induced by fasting or protein-rich meals [3]. This condition may lead to epilepsy and cognitive deficits [3].

The symptoms of HHF6 include:

• Excessive insulin secretion
• Chronic hyperammonemia (elevated levels of ammonia in the blood)
• Recurrent hypoglycemia (low blood sugar) induced by fasting or protein-rich meals
• Epilepsy and cognitive deficits in some cases

HHF6 is an autosomal dominant form of familial hyperinsulinemic hypoglycemia, meaning that a single copy of the mutated gene is sufficient to cause the condition [2]. The disorder is usually responsive to diazoxide treatment [3].

It's worth noting that HHF6 is a rare disease with heterogeneous clinical manifestations, and there are only a few reports of heterozygous activating mutations of glucokinase (GCK) attributable to FHH [11].

Familial Hyperinsulinemic Hypoglycemia 6 (HHF6) is a rare genetic disorder caused by a mutation in the glutamate dehydrogenase (GDH) gene. The signs and symptoms of HHF6 can vary, but they often include:

• Recurrent hypoglycemia: This is one of the most common symptoms of HHF6, where the blood sugar levels drop below normal [7].
• Mild hyperammonemia: Some individuals with HHF6 may experience mild elevations in serum ammonia levels, which can be a sign of the underlying metabolic disorder [6].
• Short stature and osteopenia: Untreated individuals with HHF6 may also experience short stature and osteopenia (bone thinning) due to chronic hypoglycemia [8].
• Cognitive delay: In some cases, individuals with HHF6 may experience cognitive delays or impairments, affecting their mental development [8].

It's essential to note that the symptoms of HHF6 can be non-specific and may resemble those of other conditions. Therefore, a definitive diagnosis is often made through genetic testing and biochemical analysis.

References: [6] - This form of CHI usually presents beyond 6 months of age with recurrent hypoglycemia and persistent mild hyperammonemia (serum ammonia levels 2–5 times normal). [7] - Familial hyperinsulinemic hypoglycemia-6 (HHF6) is caused by heterozygous mutation in the glutamate dehydrogenase (GDH) gene (GLUD1; 138130) on chromosome 10q ... [8] - Other manifestations in untreated individuals include short stature and osteopenia (frequently

Based on the provided context, here are some diagnostic tests for familial hyperinsulinemic hypoglycemia:

• Laboratory findings at the time of hypoglycemia: Blood sugar (BS) levels and glucagon stimulation test can provide clues to diagnosis [6].
• Genetic testing: Molecular genetics tests such as methylation analysis, mutation scanning of the entire coding region, and sequence analysis of the entire coding region can be used to identify genetic causes of hyperinsulinemic hypoglycemia [2].
• 50 gene panel: A 50 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of hypoglycemia and familial hyperinsulinism [3].
• Specific diagnosis based on measurements: Making a specific diagnosis of hyperinsulinism based on measurements, at a time of hypoglycemia, of plasma levels of metabolic products can be recommended [8].

Additionally, the following tests are mentioned in the context:

• ABCC8 (CH) DNA Sequencing Test
• GCK (CHI) DNA Sequencing Test
• GLUD1 (CHI) DNA Sequencing Test

Please note that these tests may not be an exhaustive list and a healthcare professional should be consulted for accurate diagnosis and treatment.

Treatment Options for Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia is a condition characterized by severe, persistent hypoglycemia in newborn babies, infants, and children. The primary treatment options for this condition include medical therapy and surgical intervention.

First-Line Medical Therapy: Diazoxide

The first-line drug for treating familial hyperinsulinemic hypoglycemia is the KATP channel agonist diazoxide [8][7]. Diazoxide works by inhibiting insulin secretion from the pancreas, thereby helping to regulate blood sugar levels. It is currently the only drug approved by the FDA for treatment of this condition [4].

Initiation of Glucagon Infusion

If medical therapy with diazoxide alone is unable to maintain blood glucose levels above 70 mg/dL, a glucagon infusion of 1 mg/day may be initiated [6]. However, glucocorticoids should not be used to treat hyperinsulinism or familial hyperinsulinemic hypoglycemia.

Additional Treatment Options

Other treatment options for familial hyperinsulinemic hypoglycemia include surgical intervention and other medical therapies. The choice of treatment depends on the individual case and may involve a multidisciplinary approach involving pediatricians, endocrinologists, and surgeons.

References:

[6] Initiate glucagon infusion 1 mg/day if unable to maintain BS >70 mg/dL with IV dextrose alone. Do not use glucocorticoids to treat hyperinsulinism or familial hyperinsulinemic hypoglycemia. [7] by PC Brar · 2020 · Cited by 55 — Diazoxide currently remains the only drug approved by the FDA for treatment of what is now known as congenital HI or familial hyperinsulinemic hypoglycemia. [8] by J Sikimic · 2020 · Cited by 12 — Treatment options include medical therapy and surgical intervention (9). First-line drug for treating CHI is the KATP channel agonist diazoxide (10).

Familial hyperinsulinemic hypoglycemia type 6 (FHIH6) is a rare genetic disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. The differential diagnosis for FHIH6 involves considering various conditions that can present with similar symptoms.

Possible Differential Diagnoses:

• Insulinoma: A tumor of the pancreas that produces excess insulin, causing hypoglycemia.
• Multiple Endocrine Neoplasia Type 1 (MEN1): A genetic disorder that can cause tumors in multiple endocrine glands, including the pancreas, leading to excessive insulin production.
• Congenital Hyperinsulinism: A condition characterized by inappropriate insulin secretion by pancreatic beta-cells, often presenting with hypoglycemia.
• Familial Hyperinsulinemic Hypoglycemia Type 5 (FHIH5): Another genetic disorder that causes excessive insulin production and hypoglycemia.

Key Diagnostic Features:

• Inappropriately high levels of insulin
• Non-ketotic hypoglycemia
• Raised demand for glucose to maintain blood sugar levels

Diagnostic Tests:

• Blood tests to measure insulin and glucose levels
• Imaging studies, such as CT or MRI scans, to visualize the pancreas and other endocrine glands
• Genetic testing to identify mutations in the alpha-ketoglutaric acid (α-KG) gene associated with FHIH6

Management and Treatment:

• Immediate management involves prompt diagnosis and aggressive early intervention to prevent hypoglycemia and its complications.
• Treatment may include medications, such as glucagon or octreotide, to regulate insulin levels and manage symptoms.

Please note that the above information is based on the search results provided in the context. The accuracy of this response depends on the relevance and reliability of those sources.