Hepatic-Based Inborn Errors of Metabolism - European Medical Journal

Hepatic-Based Inborn Errors of Metabolism

Hepatology
Download PDF
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.

Please view the full content in the pdf above.

Join our mailing list

To receive the EMJ updates straight to your inbox free of charge, please click the button below.
Join Now