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Human Disease

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
Ontology
Human Disease   ( DOID:0070217 )
Relationships
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Genes Involved
Zebrafish Models