Abstract
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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Clinical and Translational Perspectives on WILSON DISEASE
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
