Hepatic-Based Inborn Errors of Metabolism - European Medical Journal
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Hepatic-Based Inborn Errors of Metabolism

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Authors:
*Tormod Lund1
Disclosure:

No potential conflict of interest.

Received:
31.10.14
Accepted:
05.12.14
Citation
EMJ Hepatol. ;3[1]:41-46.

Each article is made available under the terms of the Creative Commons Attribution-Non Commercial 4.0 License.

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.

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