Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in...

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Bibliographic Details
Published in:World journal of hepatology 2013-03, Vol.5 (3), p.156-159
Main Authors: Kim, Joo Whee, Kim, Jong Hyun, Seo, Jeong Kee, Ko, Jae Sung, Chang, Ju Young, Yang, Hye Ran, Kang, Kyung Hoon
Format: Article
Language:English
Subjects:
Case Report
degeneration
diagnosis
disease
Early
genetics
Hepatolenticular
Molecular
Mutation
Wilson
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Summary:Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphosphatase 7B gene. It is rare to diagnose WD below the age of three years. Molecular genetic testing is one of the most important diagnostic methods and may confirm the diagnosis in equivocal cases. We report a case of a 9-mo old boy with WD who presented as chronic hepatitis. Genetic analysis showed compound heterozygotes of p.G1186S and c.4006delA.
ISSN:1948-5182
1948-5182
DOI:10.4254/wjh.v5.i3.156