WebFeb 14, 2024 · Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The condition is characterized by excessive deposition of copper in the liver, brain, and other tissues. ... WebAug 31, 2024 · Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. It is found worldwide, with a prevalence of …
Frontiers Late-Onset Wilson
WebClinical data, serum ceruloplasmin, liver function tests, urinary copper and liver biopsy reports were all recorded where available. 1573 patients had a serum ceruloplasmin … WebAug 1, 2008 · ROC curve of serum ceruloplasmin concentration for the diagnosis of WD. The area under the curve was 0.99 (SE 0.008; 95% CI 0.97–1.01; P < 0.0001). The curve was constructed using the data of 57 WD patients, 71 family members (49 heterozygotes and 22 wild-type homozygotes), 25 patients of the validation group, and 40 subjects with … thetford royal mail delivery office
Ceruloplasmin, Copper Toxicity and Wilson’s Disease
WebCeruloplasmin. Ceruloplasmin is the predominant Cu-containing protein in mammalian serum, a glycosylated multi-Cu ferroxidase that carries >95% of total serum Cu. … WebFeb 6, 2024 · Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological. Wilson's disease is traditionally considered a disease of children and young adults. It rarely manifests after 40 years of … WebIn Wilson's disease, the dysfunction of the Wilson protein caused by a mutation in the ATP7B gene disrupts the copper transport into the secretory pathway, resulting in a decrease in the serum ceruloplasmin level (Gitlin, 2003). The importance of ceruloplasmin in human biology is underscored by the autosomal recessive disorder ... thetford rubber roof cleaner