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

• GARD:9915
• OMIM:240800

Ontology

Human Disease   ( DOID:0112262 )