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Human Disease

leucine-sensitive hypoglycemia of infancy

Term ID
DOID:0112262
Synonyms
  • leucine-induced hypoglycemia
  • LIH
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. https://pubmed.ncbi.nlm.nih.gov/15356046/
References
Ontology
Human Disease   ( DOID:0112262 )
Relationships
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Genes Involved
Zebrafish Models