familial hyperinsulinemic hypoglycemia 6 (DOID:0070217)
Alliance: disease page
Synonyms: HHF6; HI/HA syndrome; hyperinsulinism-hyperammonemia syndrome
Alt IDs: OMIM:606762, ORDO:35878
Definition: 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.