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Summary Literature (0)
DOID:0112262 - leucine-sensitive hypoglycemia of infancy

Disease Ontology 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.

Synonyms: LIH, leucine-induced hypoglycemia,

Xenbase Genes : abcc8


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal dominant disease (is_a), hypoglycemia (is_a)