| Literature DB >> 23998100 |
Mani Kant Kumar1, Vijay Kumar, Praphul Kumar Singh.
Abstract
Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we are reporting two siblings who were affected by Wilson's disease, with only neurological manifestations, without any hepatic involvement.Entities:
Keywords: ATP7B; Dystonia; Kayser – Fleischer ring; Wilson’s Disease
Year: 2013 PMID: 23998100 PMCID: PMC3749670 DOI: 10.7860/JCDR/2013/5974.3188
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X