Mitochondrial hepatopathies in the newborn period.
Fellman, Vineta LU
and Kotarsky, Heike
LU
(2011)
In Seminars in Fetal & Neonatal Medicine
16.
p.222-228
- Abstract
- Mitochondrial disorders recognized in the neonatal period usually present as a metabolic crisis combined with one or several organ manifestations. Liver disorder in association with a respiratory chain deficiency may be overlooked since liver dysfunction is common in severely sick newborn infants. Lactacidosis, hypoglycemia, elevated serum transaminases and conjugated bilirubin are common signs of mitochondrial hepatopathy. Hepatosplenomegaly may occur in severe cases. A clinical picture with fetal growth restriction, postnatal lactacidosis, hypoglycemia, coagulopathy, and cholestasis, especially in combination with neurological symptoms or renal tubulopathy, should alert the neonatologist to direct investigations on mitochondrial... (More)
- Mitochondrial disorders recognized in the neonatal period usually present as a metabolic crisis combined with one or several organ manifestations. Liver disorder in association with a respiratory chain deficiency may be overlooked since liver dysfunction is common in severely sick newborn infants. Lactacidosis, hypoglycemia, elevated serum transaminases and conjugated bilirubin are common signs of mitochondrial hepatopathy. Hepatosplenomegaly may occur in severe cases. A clinical picture with fetal growth restriction, postnatal lactacidosis, hypoglycemia, coagulopathy, and cholestasis, especially in combination with neurological symptoms or renal tubulopathy, should alert the neonatologist to direct investigations on mitochondrial disorder. A normal lactate level does not exclude respiratory chain defects. The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in several nuclear DNA genes have been identified that lead to mitochondrial hepatopathy, e.g. mitochondrial depletion syndrome caused by DGUOK, MPV17, SUCLG1, POLG1, or C10ORF2 mutations. A combination of lactacidosis, liver involvement, and Fanconi type renal tubulopathy is common when the complex III assembly factor BCS1L harbors mutations, the most severe disease with consistent genotype-phenotype correlation being the GRACILE syndrome. Mutations in nuclear translation factor genes (TRMU, EFG1, and EFTu) of the respiratory chain enzyme complexes have recently been identified. Diagnostic work-up of neonatal liver disorder should include assessment of function and structure of the complexes as well as mutation screening for known genes. So far, treatment is mainly symptomatic. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2007969
- author
- Fellman, Vineta
LU
and Kotarsky, Heike
LU
- organization
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Seminars in Fetal & Neonatal Medicine
- volume
- 16
- pages
- 222 - 228
- publisher
- Elsevier
- external identifiers
-
- wos:000293263300008
- pmid:21680270
- scopus:79959869854
- pmid:21680270
- ISSN
- 1878-0946
- DOI
- 10.1016/j.siny.2011.05.002
- language
- English
- LU publication?
- yes
- id
- a4e29cf1-ae92-47a5-b76a-f6e8912757b5 (old id 2007969)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/21680270?dopt=Abstract
- date added to LUP
- 2016-04-04 07:17:26
- date last changed
- 2022-02-28 03:24:40
@article{a4e29cf1-ae92-47a5-b76a-f6e8912757b5,
abstract = {{Mitochondrial disorders recognized in the neonatal period usually present as a metabolic crisis combined with one or several organ manifestations. Liver disorder in association with a respiratory chain deficiency may be overlooked since liver dysfunction is common in severely sick newborn infants. Lactacidosis, hypoglycemia, elevated serum transaminases and conjugated bilirubin are common signs of mitochondrial hepatopathy. Hepatosplenomegaly may occur in severe cases. A clinical picture with fetal growth restriction, postnatal lactacidosis, hypoglycemia, coagulopathy, and cholestasis, especially in combination with neurological symptoms or renal tubulopathy, should alert the neonatologist to direct investigations on mitochondrial disorder. A normal lactate level does not exclude respiratory chain defects. The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in several nuclear DNA genes have been identified that lead to mitochondrial hepatopathy, e.g. mitochondrial depletion syndrome caused by DGUOK, MPV17, SUCLG1, POLG1, or C10ORF2 mutations. A combination of lactacidosis, liver involvement, and Fanconi type renal tubulopathy is common when the complex III assembly factor BCS1L harbors mutations, the most severe disease with consistent genotype-phenotype correlation being the GRACILE syndrome. Mutations in nuclear translation factor genes (TRMU, EFG1, and EFTu) of the respiratory chain enzyme complexes have recently been identified. Diagnostic work-up of neonatal liver disorder should include assessment of function and structure of the complexes as well as mutation screening for known genes. So far, treatment is mainly symptomatic.}},
author = {{Fellman, Vineta and Kotarsky, Heike}},
issn = {{1878-0946}},
language = {{eng}},
pages = {{222--228}},
publisher = {{Elsevier}},
series = {{Seminars in Fetal & Neonatal Medicine}},
title = {{Mitochondrial hepatopathies in the newborn period.}},
url = {{http://dx.doi.org/10.1016/j.siny.2011.05.002}},
doi = {{10.1016/j.siny.2011.05.002}},
volume = {{16}},
year = {{2011}},
}