BCAT2 and maple syrup urine disease: 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).