Document Detail

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
MedLine Citation:
PMID:  15964659     Owner:  NLM     Status:  MEDLINE    
BACKGROUND/AIMS: The aim of this study was to delineate the specific clinical, biological and liver morphological alterations of the hepatocerebral syndrome due to alterations in the deoxyguanosine kinase gene, a rare and severe form of mitochondrial DNA depletion syndrome. METHODS: We report seven cases from three unrelated families with the same mutation in the deoxyguanosine kinase gene. RESULTS: All the patients presented in the first weeks of life with hepatomegaly and progressive liver failure that led to death few months later. Major psychomotor delay and multidirectional nystagmus were reported shortly after onset of the disease. Severe hyperlactacidaemia was constant. Histological examination of the liver disclosed a multifocal injury of hepatocytes with irregular foamy steatosis, cholestasis, and fibrosis, associated with different degrees of hepatosiderosis and glycogen depletion. Liver respiratory chain activities were abnormal in all analysed patients and the amount of liver mitochondrial DNA was severely decreased. An identical homozygous 4bp GATT duplication was identified in the deoxyguanosine kinase gene of all the cases. CONCLUSIONS: These patients, together with patients reported in the literature, permit to delineate the specific features of the hepatocerebral form of mitochondrial DNA depletion syndrome and to differentiate them from other causes of neonatal liver failure.
François Labarthe; Dries Dobbelaere; Louise Devisme; Anne De Muret; Claude Jardel; Jan-Willem Taanman; Frédéric Gottrand; Anne Lombès
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of hepatology     Volume:  43     ISSN:  0168-8278     ISO Abbreviation:  J. Hepatol.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-07-11     Completed Date:  2005-11-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8503886     Medline TA:  J Hepatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  333-41     Citation Subset:  IM    
Groupement de Médecine Pédiatrique, Hôpital Clocheville, CHU Tours, France.
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MeSH Terms
Blotting, Southern
Child, Preschool
DNA, Mitochondrial / genetics*
Disease Progression
Fatal Outcome
Hepatocytes / ultrastructure
Hepatolenticular Degeneration* / genetics,  metabolism,  pathology
Infant, Newborn
Liver Failure / etiology,  metabolism,  pathology
Microscopy, Electron
Phosphotransferases (Alcohol Group Acceptor) / deficiency*,  genetics
Polymerase Chain Reaction
Prenatal Diagnosis
Reg. No./Substance:
0/DNA, Mitochondrial; EC 2.7.1.-/Phosphotransferases (Alcohol Group Acceptor); EC kinase
Comment In:
J Hepatol. 2005 Aug;43(2):207-9   [PMID:  15964657 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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