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leucine-sensitive hypoglycemia of infancy
Summary
- Synonym
-
- LIH
- leucine-induced hypoglycemia
- Definition
- 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.
- Super Class
- amino acid metabolic disorder autosomal dominant disease hypoglycemia
External Links
- Disease Ontology
- DOID:0112262
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
