Hyperinsulinism hyperammonemia syndrome
Hyperinsulinism Hyperammonemia Syndrome Hyperinsulinism Hyperammonemia Syndrome (HI/HA) is a rare genetic disorder characterized by the combination of hyperinsulinism and elevated levels of ammonia in the blood. This condition is caused by mutations in the GLUD1 gene, which encodes the enzyme glutamate dehydrogenase.
Clinical Features[edit | edit source]
Patients with HI/HA syndrome typically present with symptoms of hypoglycemia due to excessive insulin secretion. These symptoms can include:
- Lethargy
- Seizures
- Poor feeding
- Irritability
In addition to hypoglycemia, patients also exhibit elevated blood ammonia levels, which can lead to:
- Confusion
- Vomiting
- Neurological deficits
Pathophysiology[edit | edit source]
The underlying cause of HI/HA syndrome is a mutation in the GLUD1 gene. This gene encodes the enzyme glutamate dehydrogenase, which plays a crucial role in amino acid metabolism and insulin regulation. Mutations in GLUD1 lead to:
- Increased activity of glutamate dehydrogenase
- Overproduction of insulin
- Elevated ammonia levels due to altered amino acid metabolism
Diagnosis[edit | edit source]
Diagnosis of HI/HA syndrome involves:
- Clinical evaluation of symptoms
- Measurement of blood glucose and ammonia levels
- Genetic testing to identify mutations in the GLUD1 gene
Treatment[edit | edit source]
Management of HI/HA syndrome focuses on controlling hypoglycemia and hyperammonemia. Treatment options include:
- Dietary modifications to prevent hypoglycemia
- Medications such as diazoxide to reduce insulin secretion
- Use of ammonia scavengers to lower blood ammonia levels
Prognosis[edit | edit source]
With appropriate management, individuals with HI/HA syndrome can lead relatively normal lives. However, early diagnosis and treatment are crucial to prevent complications such as neurological damage.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Hyperinsulinism hyperammonemia syndrome is a rare disease.
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