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Related Experiment Video

Updated: Apr 16, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
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A review and current perspective on Wilson disease.

Mallikarjun Patil1, Keyur A Sheth1, Adarsh C Krishnamurthy1

  • 1Department of Gastroenterology, St. John's Medical College Hospital, Bangalore 560034, India.

Journal of Clinical and Experimental Hepatology
|March 11, 2015
PubMed
Summary

Wilson disease is a rare genetic disorder affecting copper metabolism. Early diagnosis and treatment are crucial for excellent prognosis, while untreated cases lead to severe liver or neurological damage.

Keywords:
ALF, acute liver failureATP7BCCS1, copper chaperone for superoxide dismutase 1CT, computerized tomographyCTR-1, copper transporter proteinMRI, magnetic resonance imagingOLT, orthotropic liver transplantationSOD1, superoxide dismutaseTM, tetrathiomolybdateUNOS, United network for organ sharingXIAP, X linked inhibitor of apoptosisceruloplasminchelatorsliver failuremutation

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Area of Science:

  • Genetics and Metabolism
  • Hepatology
  • Neurology

Background:

  • Wilson disease is an inherited autosomal recessive disorder of copper metabolism.
  • Over 500 ATP7B gene mutations exist, with limited genotype-phenotype correlation.
  • Copper accumulation in liver, brain, and other tissues causes diverse clinical manifestations.

Purpose of the Study:

  • To provide an overview of Wilson disease, including geographical variations in presentation and management.
  • To highlight diagnostic challenges and the need for improved early detection methods.
  • To discuss current treatment options and the importance of early intervention.

Main Methods:

  • Review of existing literature on Wilson disease.
  • Analysis of clinical features, diagnostic criteria, and treatment strategies.
  • Examination of geographical differences and limitations of current diagnostic tests.

Main Results:

  • Clinical presentations range from asymptomatic to acute liver failure, neuropsychiatric issues, and hemolytic anemia.
  • Diagnosis relies on clinical signs, biochemical tests, histology, and ATP7B gene analysis.
  • Geographical variations exist, with a higher incidence of acute liver failure in children in certain regions.

Conclusions:

  • Early diagnosis and treatment of Wilson disease lead to an excellent prognosis.
  • Liver transplantation is reserved for acute liver failure and end-stage liver disease.
  • Family screening and further research for better biomarkers are warranted.