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Metadata
ID DOID:0112262
Name leucine-sensitive hypoglycemia of infancy
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/
Xrefs

GARD:9915

MIM:240800

Subsets

DO_rare_slim

Synonyms

leucine-induced hypoglycemia [EXACT]

LIH [EXACT]

Parent Relationships

is_a hypoglycemia

is_a amino acid metabolic disorder

is_a autosomal dominant disease

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