Inherited metabolic diseases that affect the liver are a frequent cause of liver failure in children, but other disorders more commonly cause liver failure in adulthood where they may present with chronic liver disease and, less frequently, with acute liver failure. The identification of the underlying genetic defect for many of these inherited disorders has improved our understanding of their pathophysiology and impacted on the indications for and timing of liver transplant, yielding better outcomes. Screening for disease and genetic counseling of family members may help prevent adverse outcomes in relatives of affected individuals. Timely liver transplantation offers correction of the inherited metabolic defect and restores liver function when medical therapy is not possible or when complications of liver disease arise. Some inherited metabolic diseases have their defect based in the liver and lead not to liver disease, but to other end organ damage. Earlier detection of these disorders may prevent pathological injury by treatment of the underlying disease or by pre-emptive liver transplant. In some instances where damage of other organs has already occurred, dual organ transplant with liver and another organ may be needed. Improvement in the technical aspects of performing liver transplantation and posttransplant care has led to better outcomes for those with inherited metabolic disorders of the liver.
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