Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect

Abstract excerpt

The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated (1)H-MRS and neuropsychological...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Diet and metabolism studies
• Share to Metabolism and Genetic Disorders
• Share to Muscle metabolism and nutrition