[Glucose transporteur type 1 deficiency: a mild form]

ABSTRACT

Glucose transporter type 1 deficiency is a rare but curable disease whose real frequency is probably under estimated. This defect is responsible df reduced glucose brain supply across the blood-brain barrier. We report a mild form of GLUT1 deficiency suspected in al 9 months old boy when low cerebrospinal fluid rate glucose had persisted several months after recovery from presumed viral meningitis. GLUT 1 deficiency should be evoked in any child with delayed milestones development or seizures of unclear cause. The sole effective treatment is based on ketogenic diet