Tags: Disease.
Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. Hemizygous males with this condition show intellectual disability speech delay seizures and behavioural abnormalities. Heterozygous females can have varying symptoms. CTD is caused by mutations in SLC6A8 located at Xq28.
