Cerebral creatine deficiency syndrome

Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.

Also known as: CCDS, CDS, cerebral creatine deficiency syndrome, creatine deficiency syndrome

6 clinical trials for this condition and its sub-types, 0 tagged with Cerebral creatine deficiency syndrome itself.