Hepatic-Based Inborn Errors of Metabolism

Abstract

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.

Keywords

• gene therapy
• hepatocyte transplantation
• Inborn errors of metabolism
• inherited metabolic disorders
• liver transplantation