| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
leucine-induced hypoglycemia [EXACT] LIH [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hypoglycemia |
| Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration existence starts during some Infantile onset has material basis in some autosomal dominant inheritance |