Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Seizures typically begin within the first 4 months of life following a normal birth and gestation. Glucose concentration in cerebrospinal fluid should be the first test considered in patients suspected of having GLUT1DS. Hypoglycorrhachia (low CSF glucose, less than 40mg/dl) is practically diagnostic for this disorder. Mutations of the Solute Carrier Family 2, Member 1 (SLC2A1) have been identified in patients with GLUT1DS. Sequencing of SLC2A1 detects mutations in approximately 91% of affected individuals. Affected individuals with whole gene deletions of SLC2A1 have also been reported.
We are now offering full gene sequencing and deletion/duplication analysis of the SLC2A1 gene. Or, order both of these tests together by ordering SLC2A1 mutation analysis.