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Mitochondrial hepatopathies: Advances in genetics and pathogenesis

Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent...

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Main Authors: Lee, Way Seah, Sokol, Ronald J.
Format: Article
Language:English
Published: Wiley 2013
Subjects:
R Medicine
RJ Pediatrics
Online Access:http://eprints.um.edu.my/10876/1/Mitochondrial_hepatopathies.pdf
http://eprints.um.edu.my/10876/
https://doi.org/10.1002/hep.21710
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spelling my.um.eprints.108762019-11-19T08:28:44Z http://eprints.um.edu.my/10876/ Mitochondrial hepatopathies: Advances in genetics and pathogenesis Lee, Way Seah Sokol, Ronald J. R Medicine RJ Pediatrics Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases. (HEPATOLOGY 2007;45:1555–1565.) Wiley 2013 Article PeerReviewed application/pdf en http://eprints.um.edu.my/10876/1/Mitochondrial_hepatopathies.pdf Lee, Way Seah and Sokol, Ronald J. (2013) Mitochondrial hepatopathies: Advances in genetics and pathogenesis. Hepatology, 45 (6). pp. 1555-1565. ISSN 0270-9139 https://doi.org/10.1002/hep.21710 doi:10.1002/hep.21710
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
language English
topic R Medicine
RJ Pediatrics
spellingShingle R Medicine
RJ Pediatrics
Lee, Way Seah
Sokol, Ronald J.
Mitochondrial hepatopathies: Advances in genetics and pathogenesis
description Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases. (HEPATOLOGY 2007;45:1555–1565.)
format Article
author Lee, Way Seah
Sokol, Ronald J.
author_facet Lee, Way Seah
Sokol, Ronald J.
author_sort Lee, Way Seah
title Mitochondrial hepatopathies: Advances in genetics and pathogenesis
title_short Mitochondrial hepatopathies: Advances in genetics and pathogenesis
title_full Mitochondrial hepatopathies: Advances in genetics and pathogenesis
title_fullStr Mitochondrial hepatopathies: Advances in genetics and pathogenesis
title_full_unstemmed Mitochondrial hepatopathies: Advances in genetics and pathogenesis
title_sort mitochondrial hepatopathies: advances in genetics and pathogenesis
publisher Wiley
publishDate 2013
url http://eprints.um.edu.my/10876/1/Mitochondrial_hepatopathies.pdf
http://eprints.um.edu.my/10876/
https://doi.org/10.1002/hep.21710
_version_ 1651867348999602176
score 13.211869

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