Fig. 2
From: Case report: maple syrup urine disease with a novel DBT gene mutation
Genetic testing of patient: The homozygous mutation of c.1132C > T (p.378X) in chr1:100672078. The 1132th base of cDNA changed from C to T that caused the amino acid 378 (glutamine) to became a stop codon, leading to the early termination of protein translation. The homozygous mutation decreased activity of BCKD that causes the accumulation of BCAAs and BCKAs
