Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

ABSTRACT:

Background

Wilson's disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and diagnosis can be difficult to establish. The objectives of the present preliminary study were [1] to evaluate the relevance of serum copper (Cu) and ceruloplasmin (Cp) measures in hospitalized patients with psychiatric disorders; and [2] to identify possible mutations in the ATP7B gene in patients with abnormal biological copper profile.

Methods

All psychiatric patients who participated in this study were hospitalized in Saint-Jean de Dieu Hospital (Lyon, France). Cp was measured by immunoturbidimetry

SUBMITTER: Demily C 

PROVIDER: S-EPMC5379609 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature