Open AccessGenetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases
Author(s) -
Ju Whi Kim,
Jong Hyun Kim,
Jeong Kee Seo,
Jae Sung Ko,
Ju Young Chang,
Hye Ran Yang,
Kefei Kang
Publication year - 2013
Publication title -
world journal of hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.913
H-Index - 55
ISSN - 1948-5182
DOI - 10.4254/wjh.v5.i3.156
Subject(s) - medicine , compound heterozygosity , heterozygote advantage , wilson's disease , genetic disorder , adenosine triphosphatase , disease , genetic testing , gene , pathology , gastroenterology , genetics , genotype , allele , enzyme , biochemistry , atpase , biology
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.