Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutati...

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Bibliographic Details
Main Authors: Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial disease
mtDNA depletion
Gaucher disease
Neurohepatic
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000342

Internet

http://www.sciencedirect.com/science/article/pii/S2214426914000342

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