title: Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.
abstract: 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.
authors.affiliation: Joo Whee Kim, Jeong Kee Seo, Jae Sung Ko, Ju Young Chang, Hye Ran Yang, Department of Pediatrics, Seoul National University Children's Hospital, Jongro-gu, Seoul 110-744, South Korea.
authors.forename: Joo Whee
authors.initials: JW
authors.lastname: Kim
authors.forename: Jong Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.forename: Ju Young
authors.initials: JY
authors.lastname: Chang
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Yang
authors.forename: Kyung Hoon
authors.initials: KH
authors.lastname: Kang
keywords: Early diagnosis; Hepatolenticular degeneration; Molecular genetics; Mutation; Wilson disease
references.citation: Hepatology. 1992 Sep;16(3):728-32
references.pmid: 1505917
references.citation: Hepatology. 2008 Jun;47(6):2089-111
references.pmid: 18506894
references.citation: Korean J Hepatol. 2006 Sep;12(3):333-63
references.pmid: 16998287
references.citation: Lancet. 2007 Feb 3;369(9559):397-408
references.pmid: 17276780
references.citation: Liver Int. 2003 Jun;23(3):139-42
references.pmid: 12955875
references.citation: J Pediatr Gastroenterol Nutr. 2003 May;36(5):637-8
references.pmid: 12717088
references.citation: J Pediatr Gastroenterol Nutr. 2009 Jan;48(1):72-7
references.pmid: 19172127
references.citation: Brain. 2009 Aug;132(Pt 8):1997-2001
references.pmid: 19634211
references.citation: Hepatology. 1992 Apr;15(4):609-15
references.pmid: 1551638
references.citation: Scand J Gastroenterol. 2006 Apr;41(4):496-7
references.pmid: 16635921
references.citation: J Lab Clin Med. 2001 Mar;137(3):191-8
references.pmid: 11241029
references.citation: Pediatr Int. 1999 Aug;41(4):409-13
references.pmid: 10453196