Mitochondrial hepatopathies: advances in genetics and pathogenesis.

Mitochondrial hepatopathies: advances in genetics and pathogenesis. Research Abstract Details 

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Mitochondrial hepatopathies: advances in genetics and pathogenesis. Abstract Text:

Way S Lee,Ronald J Sokol,

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.

Mitochondrial hepatopathies: advances in genetics and pathogenesis. Publishing Authors By Initials

WS Lee,RJ Sokol,

For similar genetic phenomena: variation (genetics): mutation research abstracts see: genetic phenomena: variation (genetics): mutation research

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Mitochondrial hepatopathies: advances in genetics and pathogenesis. Journal Published:

PUBLICATION TYPE: Review

Journal: Hepatology (Baltimore, Md.)

VOLUME: 45

Page Numbers: 1555-65

Journal Abbreviation: Hepatology

ISSN: 0270-9139

DAY: 3

MONTH: Jun

YEAR: 2007

Mitochondrial hepatopathies: advances in genetics and pathogenesis. Information

Number of References: 64

LANGUAGE: eng

NlmUniqueID: 8302946

Mitochondrial hepatopathies: advances in genetics and pathogenesis. Keywords Mesh Terms:

KEYWORDS: Mutation

MESH TERMS: pathology

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Grant and Affiliation Information for Mitochondrial hepatopathies: advances in genetics and pathogenesis.

AFFILIATION: Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.

Country: United States

AGENCY: United States NIDDK

GRANT: U54 DK 078377

ACRONYM: DK

MEDLINETA: Hepatology

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