Mitochondrial BCAT2 mutations in N-ethyl-N-nitrosourea-treated mices produce pathological features similar to MSUD, providing an animal model for studying the metabolism of BCAAs (Wu et al., 2004), unlike MSUD, elevated plasma BCAAs in patients with BCAT2 deficiency do not lead to acute encephalopathy (Knerr et al., 2019). This evidence concerns the gene BCAT2 and Acute encephalopathy.