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Leucine-Sensitive Hypoglycemia Of Infancy

Disease ID: disease_node_16860

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DbxrefGARD:9915, MIM:240800
SubclassofDOID_0050736, DOID_9993, DOID_9252
Data SourceDOID
SynonymsLIH, leucine-induced hypoglycemia
Doid Labelleucine-sensitive hypoglycemia of infancy
Doid DescriptionAn 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.
Has PhenotypeHP_0011015
Existence Starts DuringHP_0003593
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16860
Doid IdDOID_0112262
LabelLeucine-Sensitive Hypoglycemia Of Infancy