[6] The SLC2A1 gene is located on the p arm of chromosome 1 in position 34.2 and has 10 exons spanning 33,802 base pairs.

[11] GLUT1 is responsible for the low level of basal glucose uptake required to sustain respiration in all cells.

[13] Mutations in the GLUT1 gene are responsible for GLUT1 deficiency or De Vivo disease, which is a rare autosomal dominant disorder.

Many mutations in the SLC2A1 gene, including LYS456TER, TYR449TER, LYS256VAL, ARG126HIS, ARG126LEU and GLY91ASP, have been shown to cause GLUT1 deficiency syndrome 1 (GLUT1DS1), a neurologic disorder showing wide phenotypic variability.

[10] The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity.

Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache.

Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation.

[4][5] Other mutations, like GLY314SER, ALA275THR, ASN34ILE, SER95ILE, ARG93TRP, ARG91TRP, a 3-bp insertion (TYR292) and a 12-bp deletion (1022_1033del) in exon 6, have been shown to cause GLUT1 deficiency syndrome 2 (GLUT1DS2), a clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia.

In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia.

[10] Another mutation, ARG212CYS, has been shown to cause Dystonia 9 (DYT9), an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia.

[4][5] Certain mutations, like GLY286ASP and a 3-bp deletion in ILE435/436, cause Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN), a rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder.

[21] Fasentin is a small molecule inhibitor of the intracellular domain of GLUT1 preventing glucose uptake.

[§ 1] This article incorporates text from the United States National Library of Medicine, which is in the public domain.