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Article

Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.

Medicine - 20 Dec 2024

Mu Jialin, Li Yulin, Sun Meng, Li Panpan, Wang Jingyun, Zou Hui

Abstract excerpt

RATIONALE: The high clinical heterogeneity of hypermethioninemia caused by MAT1A gene defects has resulted in a paucity of studies examining the association between clinical phenotypes, biochemical characteristics, and gene mutations in this patient group. Furthermore, the indications for therapeutic interventions in patients remain unclear. The objective of this study is to provide a foundation for clinical...

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Identifiers

PMID: 39705457
DOI: 10.1097/MD.0000000000040957
PMCID: PMC11666203

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