familial hyperinsulinemic hypoglycemia 6

A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 g

A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.

Signs and symptoms

• Asymptomatic hyperammonemia
• Hyperinsulinemic hypoglycemia
• Failure to thrive
• Hypoglycemic seizures
• Intellectual disability
• Hypoglycemic coma
• Abnormality of the pancreatic islet cells

Also known as: HHF6; HI/HA syndrome; hyperinsulinism-hyperammonemia syndrome