Wilson Disease in India

India, with its large population (1.311 billion), is likely to have a large number of individuals affected even for a rare genetic disorder like Wilson disease (WD). WD has been reported from all across India and is the commonest cause of chronic liver disease in older children. However, this potentially lethal disease, with overlapping symptoms with other hepatic and neurological disorders, can be well-managed by therapeutic intervention if the disease is identified early on. Identification of mutations in the disease-causing gene in different parts of India provides that opportunity as described in this chapter. This study from India also demonstrates that rigorous correlation of genotype to phenotype for WD is challenging due to clinical heterogeneity of the disease. A concerted collaborative effort of investigators with similar interests who can work together may make a difference and help achieve this goal.