familial hyperinsulinemic hypoglycemia 6

Term ID

DOID:0070217

Synonyms

• HHF6
• HI/HA syndrome
• hyperinsulinism-hyperammonemia syndrome

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. (2)

References

• GARD:9931
• MIM:606762
• ORDO:35878

Ontology

Human Disease   ( DOID:0070217 )