Creatine Deficiency Syndrome Due To AGAT Deficiency

About the Disease
Cerebral Creatine Deficiency Syndrome 3, also known as arginine:glycine amidinotransferase deficiency, is related to cerebral creatine deficiency syndrome 1 and type 2 diabetes mellitus. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and whole blood, and related phenotypes are gowers sign and intellectual disability

Common Targets
GATM

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