Table 1:
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.