/guanidinoacetate methyltransferase deficiency

guanidinoacetate methyltransferase deficiency

Rare Disease

MONDO:0012999

Also Known As

GAMT deficiencycerebral creatine deficiency syndrome 2cerebral creatine deficiency syndrome type 2disorder of guanidinoacetate N-methyltransferase activityguanidinoacetate N-methyltransferase activity diseaseguanidinoacetate methyltransferase deficiencyCCDS2creatine deficiency syndrome due to GAMT 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.