Glucose transporter protein deficiency (De Vivo disease). Glucose transporter type I deficiency syndrome (GLUT1 DS)
Incidence
10 pts has been reported by De Vivo. Many more cases reported later.
Clinical Characteristics
The disease start in infancy with severe seizures. Later variable mental retardation, clumsiness, motor delay, impaired languaje and progressive microcephaly develop. EEG and Imaging studies are non specific. The hallmark of the disease is low CSF sugar (around 30 mg%) and low CSF/blood glucose ratio (around 0.33). CSF lactate is also reduced (0.94-1 mmol/L). Interesting seizures respond rapidly to ketogenic diet. Parents are normal. Head circunference may start growing again when seizures are under control on the ketogenic diet.
Precipitants
No regarding seizures, but the abnormal paroxysmal involuntary movements seems to be triggered by some exercise, walking, etc.
Provocation Tests
no
Diagnostic Procedures
The hallmark of the disease is low CSF sugar (around 30 mg%) and low CSF/blood glucose ratio (around 0.33). CSF lactate is also reduced (0.94-1 mmol/L). It can be diagnosed investigating GLUT1 gene mutation.