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 t...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
European Medical Journal
2015-01-01
|
| Series: | European Medical Journal Hepatology |
| Subjects: | |
| Online Access: | http://emjreviews.com/wp-content/uploads/Hepatic-Based-Inborn-Errors-of-Metabolism.pdf |
| _version_ | 1818278901650030592 |
|---|---|
| author | Tormod Lund |
| author_facet | Tormod Lund |
| author_sort | Tormod Lund |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T23:24:48Z |
| format | Article |
| id | doaj.art-9c7ddc0ff9a74e5487f136add1649360 |
| institution | Directory Open Access Journal |
| issn | 2053-4221 |
| language | English |
| last_indexed | 2024-12-12T23:24:48Z |
| publishDate | 2015-01-01 |
| publisher | European Medical Journal |
| record_format | Article |
| series | European Medical Journal Hepatology |
| spelling | doaj.art-9c7ddc0ff9a74e5487f136add16493602022-12-22T00:08:09ZengEuropean Medical JournalEuropean Medical Journal Hepatology2053-42212015-01-01314146Hepatic-Based Inborn Errors of MetabolismTormod Lund0Surgical Department, Vestre Viken Hospital Trust, Drammen, Norway 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.http://emjreviews.com/wp-content/uploads/Hepatic-Based-Inborn-Errors-of-Metabolism.pdfgene therapyhepatocyte transplantationInborn errors of metabolisminherited metabolic disordersliver transplantation |
| spellingShingle | Tormod Lund Hepatic-Based Inborn Errors of Metabolism European Medical Journal Hepatology gene therapy hepatocyte transplantation Inborn errors of metabolism inherited metabolic disorders liver transplantation |
| title | Hepatic-Based Inborn Errors of Metabolism |
| title_full | Hepatic-Based Inborn Errors of Metabolism |
| title_fullStr | Hepatic-Based Inborn Errors of Metabolism |
| title_full_unstemmed | Hepatic-Based Inborn Errors of Metabolism |
| title_short | Hepatic-Based Inborn Errors of Metabolism |
| title_sort | hepatic based inborn errors of metabolism |
| topic | gene therapy hepatocyte transplantation Inborn errors of metabolism inherited metabolic disorders liver transplantation |
| url | http://emjreviews.com/wp-content/uploads/Hepatic-Based-Inborn-Errors-of-Metabolism.pdf |
| work_keys_str_mv | AT tormodlund hepaticbasedinbornerrorsofmetabolism |