Cerebral Creatine Deficiency Syndrome 2 (CCDS2)

Cerebral Creatine Deficiency Syndrome 2, also known as guanidinoacetate methyltransferase deficiency, is related to creatine deficiency disorders and cerebral creatine deficiency syndrome 1, and has symptoms including ataxia and myoclonus. An important gene associated with Cerebral Creatine Deficiency Syndrome 2 is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Silver sulfadiazine and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include brain and skeletal muscle, and related phenotypes are seizure and intellectual disability, severe