| Autor: |
Almaghrabi, Majdah A., Muthaffar, Osama Y., Alahmadi, Sereen A., Abdulsbhan, Mashael A., Bamusa, Mashael, Aljezani, Maram Ahmed, Bahowarth, Sarah Y., Alyazidi, Anas S., Aggad, Waheeb S. |
| Zdroj: |
Child Neurology Open; 11/15/2023, p1-15, 15p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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