Li et al. [29] described eight cases of MSUD (in four females and four males) from unrelated Chinese families who were diagnosed through serum BCAA and genetic analysis between 9 days to 1 year and 8 months of life (six patients presented the neonatal form of the disease); 12 different mutations were found with six in the BCKDHA gene, five in the BCKDHB gene, and one in the DBT gene, of which only one mutation located in the BCKDHA gene had been reported in the literature. This evidence concerns the gene BCKDHB and maple syrup urine disease.