Inborn errors of metabolism are rare disorders with few therapeutic options for their treatments, which can make patients suffer complications. Therefore, compounded drugs might be a promising option given that they have the ability meeting patient’s specific needs, (i) identification main described in literature; (ii) proposal compounding systems and (iii) calculation budgetary addition inclus...

Background: Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting from the accumulation leucine, isoleucine and valine. The classic form more common, in which there are neurological signs symptoms, coma, death third or fifth day life. Treatment based on diet liver transplantation.

IN T RO DU C T IO N LC-ESI-MS is currently the most prevalent separation technique employed in neonatal screening, used to diagnose over 30 inborn errors of amino acid, organic acid, and fatty acid metabolism. Recent analytical improvements in this approach have reduced the false-positive result rate, as compared to other conventional techniques. 2 However, UPLC/MS has not yet been used for ana...