Wilson’s disease in Asia

ABSTRACT

Wilson’s disease is an autosomal recessive disorder of copper metabolism. The resultant accumulation of copper primarily damages the liver and brain, resulting in hepatic, neurological and psychiatric symptoms. There have been many recent studies advancing the understanding of Wilson’s disease in Asia. There are indications that the incidence of Wilson’s disease in parts of Asia may be relatively high. Many genetic studies have identifi ed various hot spots in theATP7B gene in a variety of the Asian populations. Screening of these hotspot mutations may thus be useful in confi rming the diagnosis. Despite the advances in treatment, lack of familiarity by the health care profession resulting in late diagnosis, and poor access to treatment particularly among those from the developing economies remain areas of major concern.