%0 Journal Article
%T Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases
%A Joo Whee Kim
%A Jong Hyun Kim
%A Jeong Kee Seo
%A Jae Sung Ko
%J World Journal of Hepatology
%D 2013
%I Baishideng Publishing Group Co. Limited
%R 10.4254/wjh.v5.i3.156
%X 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.
%K Hepatolenticular degeneration
%K Wilson disease
%K Early diagnosis
%K Molecular genetics
%K Mutation
%U http://www.wjgnet.com/1948-5182/full/v5/i3/156.htm