has material basis in germline mutation in
disease has basis in disruption of
disease caused by disruption of
GAMT
guanidinoacetate N-methyltransferase activity
disease
cerebral creatine deficiency syndrome
guanidinoacetate methyltransferase deficiency
https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency
cerebral creatine deficiency syndrome 2
cerebral creatine deficiency syndrome type 2
disorder of guanidinoacetate N-methyltransferase activity
UMLS:C0574080
ICD9:277.6
MESH:C537622
creatine deficiency syndrome due to GAMT deficiency
GAMT deficiency
SCTID:124239003
guanidinoacetate N-methyltransferase activity disease
NORD:1967
DOID:0050799
CCDS2
guanidinoacetate methyltransferase deficiency
Orphanet:382
MONDO:0012999
OMIM:612736
GARD:2578
Guanidinoacetate methyltransferase (GAMT) deficiency is 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.
creatine biosynthetic process disease