Maple Import Urine Disease Research Paper

Maple syrup urine disease (MSUD) is a metabolic disorder due to deficiency of branched-chain alpha keto acid dehydrogenase enzyme resulting in accumulation of branched-chain amino acids (BCAAs) (leucine, isoleucine, and valine). Prolonged accumulation of leucine and its metabolites may lead to cerebral edema and its lethal complication like cerebral herniation and severe permanent neuronal damage causing psychomotor developmental delay. Lowering the concentration of these metabolic byproducts can prevent permanent neurological damage and may be life saving, particularly when extreme concentrations are reached. A goal of treatment is to rapid removal of toxic metabolites, correction of metabolic abnormalities and prevents further accumulation

Such clearance is slower than the clearance achieved with HD but continuous treatment compensate for this clearance difference. In addition, it eliminates rebound effect of BCAA blood levels after HD and subsequent re exposure to potentially toxic BCAA levels. CVVHDF is well described as a well-tolerated procedure in children and neonates and also it does not induce any major hemodynamic disturbances. This has potential value in hemodynamically unstable neonate with cerebral edema during worsening MSUD (13). CVVHD should be administered as soon as possible in cases that do not respond to pharmacological and dietary therapy. Studies published in recent years report that CVVHD has more positive effects on prognosis in all inborn error of metabolism(14)(15), also it was observed that toxic metabolites decrease much faster rate with CVVHD compared with PD which shortens the overall dialysis duration(16) and positively affects the neurological outcome. Whenever available, In the neonates with metabolite crisis, CVVHDF is reported as an urgent treatment and may be first choice of