Friday 30 May 2003
Definition: Progressive hepatolenticular degeneration, or Wilson’s disease, is an autosomal recessive disorder of copper metabolism due to a mutation in the gene ATP7B.
The worldwide prevalence is about 1 in 30,000, which may vary by population. Higher prevalence rates were reported using more sensitive screening techniques and pilot population screening. Incidence in United States of 1 in 55,000. Incidence worldwide of 1 in 30,000 to 50,000
Typical presentations include neuropsychiatric and hepatic dysfunction, whereas atypical presentations are protean.
Diagnosis relies on a high clinical suspicion, typical neurological symptoms, presence of Kayser-Fleischer rings, and reduced serum ceruloplasmin concentration.
The conventional value of
Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson’s disease. Lancet. 2007 Feb 3;369(9559):397-408. PMID: #17276780#