Abstract

Monogenic diseases are the results of a single gene mutation leading to alterations or defects in a single enzyme causing severe metabolic derangements causing multi-systemic systemic disease and even death Current management strategies include diet to reduce the accumulation of metabolic waste products and treatment to increase the excretion of the toxic metabolites and to induce the activity of the mutant enzyme. However, liver transplantation is the only therapeutic strategy that offers a chance of cure to children with certain genetic diseases.

Keywords: Liver transplantation, pediatric liver diseases, pediatric monogenic diseases

Copyright and license

Copyright © 2023 The author(s). This is an open-access article published by Aydın Pediatric Society under the terms of the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Varol FI. Liver transplantation in pediatric monogenic metabolic diseases. Trends in Pediatrics. 2023;4(4):227-237. https://doi.org/10.59213/TP.2023.36025

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