Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient
Kok, K.F.; Hoevenaars, B.; Waanders, E.; Drenth, J.P.H.
Netherlands Journal of Medicine 66(8): 348-350
2008
ISSN/ISBN: 0300-2977 PMID: 18809983 Document Number: 615447
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.