Creatine Transporter Deficiency

Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism. The onset of symptoms occurs during infancy, but the average age of diagnosis ranges from 2 to 66 years of age. Since the disease is now becoming better recognized and testing is available, it is anticipated that diagnosis will primarily occur within the first 3 years of life.

Reference: Rare Diseases (NORD)