Amaral AU1, Cecatto C, Busanello EN, Ribeiro CA, Melo DR, Leipnitz G, Castilho RF, Wajner M.
Mol Genet Metab. 2012 Jan;105(1):84-90. doi: 10.1016/j.ymgme.2011.10.006. Epub 2011 Oct 19.Tissue accumulation and high urinary excretion of ethylmalonic acid (EMA) occur in ethylmalonic encephalopathy (EE) and short chain acyl-CoA dehydrogenase deficiency (SCADD). Although these autosomal recessive disorders are clinically characterized by neurological abnormalities, the mechanisms underlying the brain damage are poorly known. Considering that little is known about the neurotoxicity of EMA and that hyperlacticacidemia occurs in EE and SCADD, we evaluated the effects of this metabolite on important parameters of oxidative metabolism in isolated rat brain mitochondria. Read More