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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: leucine-induced hypoglycemia, LIH
Xenbase Genes
:
abcc8
Other Model Organisms: Alliance, 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)