oxidative stress by inhibiting the methylation pathway and formation of glutathione, which is dependent on that pathway. This disrupts the biosynthesis of myelin, urea, and glucose. Specifically, excess methylmalonyl-CoA places oxidative stress on the mitochondrial enzymes involved in the urea cycle (such as ammonia-dependent-carbamoyl-phosphate synthase or CPS1), and inhibits its mechanism of action. The combination of inhibited urea synthesis and poor protein metabolism, as well as a weakly replenished tricarboxylic acid cycle contribute to the symptoms of methylmalonic acidemia. Diagnosis Several tests can be done to discover the dysfunction of methylmalonyl-CoA mutase. Ammonia test, blood count, CT scan, MRI scan, electrolyte levels, genetic testing, methylmalonic acid blood test, and blood plasma amino acid tests all can be conducted to determine deficiency. Treatment There is no treatment for complete lesion of the mut0 gene, though several treatments can help those with slight genetic dysfunction. Liver and kidney transplants, and a low-protein diet all help regulate the effects of the diseases. Prognosis Infant mortality is high for patients diagnosed with early onset; mortality can occur within less than 2 months, while children diagnosed with late-onset syndrome seem to have higher rates of survival. Patients with a complete lesion of mut0 have not only the poorest outcome of those with methylaonyl-CoA mutase deficiency, but also of all individuals with any form of methylmalonic acidemia. See also Methylmalonyl-CoA mutase References External links Amino acid metabolism disorders