familial hyperinsulinemic hypoglycemia 8

A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23.

Signs and symptoms

• Expressive language delay
• Mild intellectual disability
• Hypercholesterolemia
• Hypoglycemic seizures
• Global developmental delay
• Chronic constipation
• Hyperammonemia
• Hypoglycemia
• Hypothyroidism
• Elevated circulating thyroid-stimulating hormone concentration