{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,9]],"date-time":"2026-11-09T16:38:01Z","timestamp":1794242281626,"version":"4.9.0"},"reference-count":51,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>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 (\u00b129.03) (range 12-372 months). The mean age of disease onset was 28.32 months (\u00b113.68) (range 8 days \u2013 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\u2019 health, stressing that personalized treatment programs are essential in managing this disorder.<\/jats:p>","DOI":"10.1177\/2329048x231215630","type":"journal-article","created":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T01:27:40Z","timestamp":1700098060000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management"],"prefix":"10.1177","volume":"10","author":[{"given":"Majdah A.","family":"Almaghrabi","sequence":"first","affiliation":[{"name":"Division of Pediatrics Neurology, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama Y.","family":"Muthaffar","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Neurology, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sereen A.","family":"Alahmadi","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Neurology, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashael A.","family":"Abdulsbhan","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Neurology, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashael","family":"Bamusa","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Neurology, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maram Ahmed","family":"Aljezani","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Neurology, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7756-4213","authenticated-orcid":false,"given":"Sarah Y.","family":"Bahowarth","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anas S.","family":"Alyazidi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waheeb S.","family":"Aggad","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,11,15]]},"reference":[{"key":"bibr1-2329048X231215630","unstructured":"Mercimek-Andrews S, Salomons GS. 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