Disease

Guanidinoacetate Methyltransferase Deficiency

About the Disease
Cerebral Creatine Deficiency Syndrome 2, also known as guanidinoacetate methyltransferase deficiency, is related to cerebral creatine deficiency syndrome 1 and west syndrome, 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, skeletal muscle and retina, and related phenotypes are intellectual disability, severe and severe global developmental delay

Common Targets
GAMT

疾病靶点研报
Guanidinoacetate Methyltransferase Deficiency

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