RESUMO
Objective: Analyze the treatment modalities used in real practice by synthesizing available literature. Methods: We reviewed and evaluated 52 cases of GAMT deficiency including 4 novel cases from Saudi Arabia diagnosed using whole-exome sequencing. All data utilized graphical presentation in the form of line charts and illustrated graphs. Results: The mean current age of was 117 months (±29.03) (range 12-372 months). The mean age of disease onset was 28.32 months (±13.68) (range 8 days - 252 months). The most prevalent symptom was developmental delays, mainly speech and motor, seizures, and intellectual disability. The male-to-female ratio was 3:1. Multiple treatments were used, with 54 pharmacological interventions, valproic acid being the most common. Creatinine monohydrate was the prevalent dietary intervention, with 25 patients reporting an improvement. Conclusion: The study suggests that efficient treatment with appropriate dietary intervention can improve patients' health, stressing that personalized treatment programs are essential in managing this disorder.
