Genetic Footprints of Maple Syrup Urine Disease Across Populations: Rare Mutations and Real Insights- A Systematic Review and Meta-Analysis

This project is a systematic review and meta-analysis evaluating clinical, biochemical, genetic variants in individuals with Maple Syrup Urine Disease (MSUD), a rare inborn error of branched-chain amino acid metabolism caused by pathogenic variants in BCKDHA, BCKDHB, DBT, and DLD. The primary aim is to synthesize available evidence on genetic variants including novel variants. Secondary objectives include assessing genotype–phenotype correlations. The study follows PRISMA guidelines and includes observational and interventional studies. Meta-analyses will be performed using random-effects models where appropriate. Expected outcomes include improved understanding of MSUD , with findings intended to inform clinical practice and future research. All study materials will be shared openly via the Open Science Framework to ensure transparency and reproducibility.