Cerebral Creatine Deficiency Syndrome 3 (CCDS3)

Cerebral Creatine Deficiency Syndrome 3(来自ICD-11)

别称:

Agat Deficiency

Arginine:glycine Amidinotransferase Deficiency

Creatine Deficiency Syndrome Due to Agat Deficiency

L-Arginine:glycine Amidinotransferase Deficiency

Gatm Deficiency

Ccds3

L-Arginine:glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3

Arginine Glycine Amidinotransferase Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cerebral Creatine Deficiency Syndrome 3, also known as agat 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

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