Guanidinoacetate methyltransferase deficiency

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: GAMT deficiency, cerebral creatine deficiency syndrome 2, cerebral creatine deficiency syndrome type 2, disorder of guanidinoacetate N-methyltransferase activity, guanidinoacetate N-methyltransferase activity disease, guanidinoacetate methyltransferase deficiency, CCDS2, creatine deficiency syndrome due to GAMT deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Guanidinoacetate methyltransferase deficiency itself.