AGAT deficiency
AGAT deficiency
Definition
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
Also known as AGAT deficiency, arginine:glycine amidinotransferase deficiency, CCDS3, cerebral creatine deficiency syndrome 3, cerebral creatine deficiency syndrome type 3, creatine deficiency syndrome due to AGAT deficiency, disorder of glycine amidinotransferase activity, GATM deficiency, glycine amidinotransferase activity disease, L-arginine:glycine amidinotransferase deficiency — per MONDO