CTD is difficult to treat because the actual<unk>  responsible for transporting<unk>  to the brain and muscles is<unk> ive. Affected individuals have sufficient amounts of<unk> , however it cannot get to the tissues where it is needed. Studies in which oral<unk>  monohydrate supplements were given to patients with CTD found that patients did not respond to treatment. However, similar studies conducted in which patients that had GAMT or AGAT deficiency were given oral<unk>  monohydrate supplements found that patient’s clinical symptoms improved. Patients with CTD are unresponsive to oral<unk>  monohydrate supplements because regardless of the amount of<unk>  they ingest, the<unk><unk>  is still<unk> ive, and therefore<unk>  is incapable of being<unk>  across the BBB. Given the major role that the BBB has in the transport of<unk>  to the brain and unresponsiveness of oral<unk>  monohydrate supplements in CTD patients, future research will focus on working with the BBB to deliver<unk>  supplements. However, given the limited number of patients that have been identified with CTD, future treatment strategies must be more effective and efficient when recognizing individuals with CTD.
Creatine transporter defect
N-Acetylglutamate synthase deficiency
Cerebral creatine deficiency
Mitochondrial complex II deficiency
Lysosomal storage disease
D-bifunctional protein deficiency
Mitochondrial trifunctional protein deficiency
Trinucleotide repeat disorder