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

Compound heterozygous mutations c.874C > T and c.896G > A may result in higher levels of methionine, affecting the central nervous system. For newborns with initial methionine levels of >500 µmol/L, treatment with a low-Met diet is recommended. Liver transplantation may be beneficial for children with severe hypermethioninemia, particularly in preventing central nervous system damage.