leucine-sensitive hypoglycemia of infancy

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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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: 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)