Hepatic-Based Inborn Errors of Metabolism

Inborn errors of metabolism (IEMs) are a vast, diverse, and heterogeneous set of genetic disorders.  Hepatic-based IEMs are a significant cause of morbidity and mortality, and represent a common indication for liver transplantation (LTx) in the paediatric population. This review focuses on four of the most common hepatic-based IEMs where Tx, either as whole organ liver or as isolated hepatocytes, may be an option: familial amyloid polyneuropathy, Wilson’s disease, alpha-1 antitrypsin deficiency, and phenylketonuria.