leucine-sensitive hypoglycemia of infancy

info · Genetic

An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.

Signs and symptoms

Hyperinsulinemic hypoglycemia
Hypoglycemia
Strabismus
Seizure
Ataxia
Irritability
Drowsiness
Spasticity
Intellectual disability
Coma

Also known as: LIH; leucine-induced hypoglycemia