Hepatic-Based Inborn Errors of Metabolism

*Tormod Lund

Surgical Department, Vestre Viken Hospital Trust, Drammen, Norway
*Correspondence to tolund@vestreviken.no

Disclosure: No potential conflict of interest.
Received: 31.10.14 Accepted: 05.12.14
Citation: EMJ Hepatol. 2015;3[1]:41-46.


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.

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