title: Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
abstract: Wilson's disease (WD) is a disorder of copper metabolism leading to copper accumulation in the liver and in extrahepatic organs, such as brain and cornea. We present a patient with liver disease who did not fulfil the biochemical criteria for WD. Mutational analysis was necessary to make the diagnosis and show a new mutation. Our case supports the use of mutation analysis in cases with unclear liver disease and suggests that the spectrum of WD is broader than currently assumed.
authors.affiliation: Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, the Netherlands. K.Kok@MDL.umcn.nl
authors.forename: K F
authors.initials: KF
authors.lastname: Kok
authors.forename: B
authors.initials: B
authors.lastname: Hoevenaars
authors.forename: E
authors.initials: E
authors.lastname: Waanders
authors.forename: J P H
authors.initials: JP
authors.lastname: Drenth
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D003300:Copper / Q000633:toxicity*; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008967:Molecular Biology; D009154:Mutation
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases