Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency
Definition
A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
Also known as cerebral creatine deficiency syndrome 2, cerebral creatine deficiency syndrome type 2, disorder of guanidinoacetate N-methyltransferase activity, GAMT deficiency, guanidinoacetate methyltransferase deficiency, guanidinoacetate N-methyltransferase activity disease — per MONDO