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Table 1: Presentation of the patients
Patients (Age of diagnosis) Clinical Presentation MRI Mutation
1. GAMT-d (4 years) Psychomotor delay with absence of speech; mild hypotonia; dyskinetic movements; drug resistant seizures Bilateral pallidal alterations c.491insG/IVS5–3C>G
2. GAMT-d (12 years) Mental retardation; partial seizures; autism-like behavior Normal L197P/L197P
3. AGAT-d (6 years) Mental retardation; behavioral disorders; absence of speech; reduced somatic growth and microcephalia Normal W149X/W149X
4. AGAT-d (4 years) Mental retardation; behavioral disorders; absence of speech; reduced somatic growth and microcephalia Normal W149X/W149X
5. AGAT-d (2 years) Psychomotor delay; absence of language; behavioral disorders. Normal W149X/W149X
Note:—GAMT-d indicates guanidinoacetate methyltransferase defect; AGAT-d, arginine:glycine amidinotransferase defect.