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MIRAGE
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
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6833 ABCC8 ATP binding cassette subfamily C member 8
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q09428 ATP-binding cassette sub-family C member 8
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 7, 2025