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GLUT-1 Deficiency

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. Three different phenotypes can be recognized: (i) classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) adult cases of glucose transporter-1 deficiency syndrome with minimal symptoms.

Important Cerebrospinal Fluid abnormalities include:

- Decreased glucose concentrations can be found in the CSF of all patients (< 2.5 mmol/l; range 0.9-2.4 mmol/l) and the cerebrospinal fluid / blood glucose ratio is below 0.50 in almost all patients (range 0.19-0.52)
- Lactate concentration is often (but not always) low in CSF

Review on GLUT-1 deficiency syndrome: PubMed

Our laboratory offers fast and efficient analysis of the following compounds in CSF for the diagnosis of Glucose transporter-1 deficiency syndrome:

- Routine CSF analysis (cell count & differentiation), glucose, lactate, total protein
Click here to download analysis protocols

Our lab also offers mutation analysis of the SLC2A1 gene.