Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Wilson disease: an update].

Jeong Kee Seo1

  • 1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.

The Korean Journal of Hepatology
|September 26, 2006
PubMed
Summary

Wilson disease (WD) is a genetic disorder of copper transport. Genetic testing is crucial for diagnosing WD and differentiating carriers, with zinc therapy showing promise for asymptomatic patients.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study.

Journal of Korean medical science·2020
Same author

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying <i>ATP7B</i> Mutations and Phenotype Correlations in Children with Wilson Disease.

Journal of Korean medical science·2018
Same author

Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.

World journal of gastroenterology·2016
Same author

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.

The Journal of allergy and clinical immunology·2015
Same author

Genetic Polymorphisms in Autophagy-Associated Genes in Korean Children With Early-Onset Crohn Disease.

Journal of pediatric gastroenterology and nutrition·2015
Same author

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants.

Korean journal of pediatrics·2015

Area of Science:

  • Genetics
  • Hepatology
  • Biochemistry

Background:

  • Wilson disease (WD) is an inherited autosomal recessive disorder affecting copper transport, leading to toxic accumulation in organs like the liver and brain.
  • It is the most common inherited liver disease in the Korean pediatric population, with specific prevalent ATP7B gene mutations identified.

Purpose of the Study:

  • To investigate the role of genetic testing in diagnosing Wilson disease in Korea.
  • To analyze genotype-phenotype correlations and evaluate diagnostic parameters for WD.
  • To review current treatment strategies and their efficacy.

Main Methods:

  • Nation-wide survey of 550 Korean WD patients.
  • Analysis of ATP7B gene mutations (p.R778L, p.A874V, p.L1083F, p.N1270S).
  • Evaluation of diagnostic criteria including serum ceruloplasmin, 24-hour urine copper, hepatic copper content, and Kayser-Fleischer rings.
  • Assessment of genetic testing (DNA sequencing, haplotype analysis) for diagnosis and carrier differentiation.

Main Results:

  • Direct DNA sequencing confirmed WD in 98% of Korean patients.
  • No clear correlation found between the R778L mutation and clinical presentation in Korean patients.
  • A combination of two diagnostic findings strongly supports WD diagnosis; genetic testing is highly reliable.

Conclusions:

  • Genetic testing is essential for accurate WD diagnosis and carrier screening in Korea.
  • Current treatment trends favor less toxic agents like trientine and zinc over penicillamine, especially for neurologic WD.
  • Zinc therapy demonstrates safety and efficacy in asymptomatic/presymptomatic patients and as maintenance therapy.

Related Experiment Videos