Liver transplantation for inborn errors of metabolism

Abstract

Liver transplantation (LT) has become an accepted treatment for various hepatic-based metabolic disorders. For diseases with hepatic origin but mainly extrahepatic manifestations, it can be regarded as a means of gene therapy. Depending on the underlying disease, optimal dietary and medicamentous treatment cannot reliably prevent periods of metabolic decompensation resulting in severe organ damage. In severe neonatal forms of urea cycle disorders, liver transplantation should be considered in early infancy. The same applies to propionic acidemia, although severe perioperative complications have been described. In methylmalonic aciduria, there is no consensus whether LT alone is prior to combined liver and kidney transplantation (LKT). Moreover, late neurologic complications can occur in some patients with propionic and methylmalonic acidemias. LT as well as LKT is discussed in primary hyperoxaluria. For patients with cystic fibrosis and biliary cirrhosis, LT has become an established treatment that may even improve pulmonary function. Careful individual decisions must be made in patients with mitochondrial disorders because of possible progressive neuromuscular involvement. In most hepatic-based metabolic disorders, restoration of only about 10% of the original enzyme activity is sufficient to warrant sufficient metabolic control.