Table 1:

Presentation of the patients

Patients (Age of diagnosis)Clinical PresentationMRIMutation
1. GAMT-d (4 years)Psychomotor delay with absence of speech; mild hypotonia; dyskinetic movements; drug resistant seizuresBilateral pallidal alterationsc.491insG/IVS5–3C>G
2. GAMT-d (12 years)Mental retardation; partial seizures; autism-like behaviorNormalL197P/L197P
3. AGAT-d (6 years)Mental retardation; behavioral disorders; absence of speech; reduced somatic growth and microcephaliaNormalW149X/W149X
4. AGAT-d (4 years)Mental retardation; behavioral disorders; absence of speech; reduced somatic growth and microcephaliaNormalW149X/W149X
5. AGAT-d (2 years)Psychomotor delay; absence of language; behavioral disorders.NormalW149X/W149X
  • Note:—GAMT-d indicates guanidinoacetate methyltransferase defect; AGAT-d, arginine:glycine amidinotransferase defect.