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familial hyperinsulinemic hypoglycemia 6
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease hyperinsulinemic hypoglycemia
External Links
- Disease Ontology
- DOID:0070217
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00367 | Glutamate dehydrogenase 1, mitochondrial |
