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Standards Ontologies Notations
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
Disease Ontology
DOID:0112262
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6833 ABCC8 ATP binding cassette subfamily C member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
20927 Abcc8 ATP-binding cassette, sub-family C member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
25559 Abcc8 ATP binding cassette subfamily C member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
850678 YBT1 bile acid-transporting ATPase YBT1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024