Treatable GLUT 1 Deficiency Chorea Syndrome

Abstract

A 7-year-old developmentally delayed girl with chorea and a glucose transporter type 1 (GLUT 1) deficiency syndrome is reported from Hospital Universitari Sant Joan de Deu, Barcelona, Spain, and University of Texas Southwestern Medical Centre, Dallas.

Keywords

• glut 1 deficiency syndrome
• chorea and mental retardation
• ketogenic diet