| Term Name: | glucose transporter type 1 deficiency syndrome |
|---|---|
| Synonyms: | GLUT1DS |
| Definition: | A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. |
| Ontology: | Human Disease [DOID:0070560] ( DOID:0070560 ) |