Report of liver transplantation in organic aciduria

The outcome for childrens suffering from severe and early-onset organic acidurias (OA), such as propionic acidemia (PA) and methylmalonic acidemia (MMA), due to the inherited propionyl-Coa carboxylase and methylmalonyl-CoA mutase deficieny, respectively, remains poor. Despite the conventional treatment with low-protein diet, carnitine and metronidazole supple- mentation, the course of severely affected patients who survived to the neonatal ketoacidotic coma is character- ized by recurrent life-threatening episodes of metabolic acidosis, anorexia, vomiting, failure to thrive, develop- mental delay, stroke, extrapyramidal signs, pancreatitis, progressive renal disease and cardiomyopathy. Retrospective studies show a 80% mortality within the first 10 years of life . Alternative treatment such as liver transplantation (OLT) has been considered, but this option is not commonly adopted. The goal of OLT in OA is to provide normal enzyme activity at the liver in order to assure a sufficient clearance of toxic organic, deriv- ing mainly from muscular aminoacid catabolism.