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

Joo Whee Kim | Zendy

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

Author(s) -

Joo Whee Kim

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.

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