SUCLA2 and mitochondrial encephalomyopathy: Mouse embryos mutant for Sucla2 exhibit deficiency of ADP-specific succinyl-CoA synthetase activity, significant depletion of mtDNA in brain and skeletal muscle and increased cellular content of MMA, which are prominent features observed in patients that have mitochondrial encephalomyopathy with mtDNA depletion associated with SUCLA2 mutations (Elpeleg et al., 2005; Carrozzo et al., 2007; Ostergaard et al., 2007b).