Marked reduction of Na+, K+-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice

Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload

“…On the other hand, we cannot attribute our present findings to a transient temporal alteration of some parameters of energy homeostasis since soon after Lys administration (4 h) moderate inhibitions of Na þ , K þ -ATPase and creatine kinase activities, as well as mild changes of some respiratory chain complexes were found in the brain of GcdhÀ/À mice (Amaral et al, 2012a). The data reinforce our conclusions that Lys overload mildly disturbs energy homeostasis in GcdhÀ/À mice.…”

“…Our group recently demonstrated mild impairment of the respiratory chain and reduced activities of Na þ , K þ -ATPase and creatine kinase in brain of 15 and 30-day-old GcdhÀ/ À mice (Amaral et al, 2012a(Amaral et al, , 2012b. The purpose of the present study was to evaluate a large spectrum of parameters of energy homeostasis in mitochondria obtained from cerebral cortex and striatum of GcdhÀ/À mice fed a baseline or a high Lys chow.…”

Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in glutaric aciduria type I

“…We have recently reported mild alterations of cell bioenergetics evaluated by the respiratory chain complexes activities and inhibition of Na + , K + -ATPase activity in whole brain from 15-day-old Gcdh−/− mice [81]. The present study also evaluated mitochondrial oxidative metabolism by oxymetry and found that the small changes of the activities of the respiratory chain were not enough to alter resting and ADP-stimulated and uncoupled mitochondrial respiration.…”

Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review

“…[16] Investigation of GCDH in mice showed markedly decreased brain and skeletal muscle CK activity after administration of lysine. [17] Before each attack, our patient consumed a large amount of mutton which contains large anout of lysine.…”