Recessive hereditary defect (see recessiveness) that impairs one's ability to metabolize copper. In affected persons, copper accumulates in the basal ganglia (see ganglion) of the brain (involved in control of movement), causing progressive degeneration; forms a brownish ring at the margin of the cornea of the eye; and is deposited in the liver, gradually leading to cirrhosis. Other symptoms include tremor, lack of coordination, and personality changes. The disease usually appears in the person's teen years or twenties. Early diagnosis and treatment with a high-protein, low-copper diet and a substance to chelate copper can reverse the effects and prevent permanent brain and liver damage.
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Newborn Screening for Wilson Disease: Does Liquid Chromatography-Tandem Mass Spectrometry Provide the Solution?
Dec 01, 2008; Detailed criteria for newborn screening programs have been formulated (1 ), but the basic principles include requirements that...
Diagnostic Accuracy of Serum Ceruloplasmin in Wilson Disease: Determination of Sensitivity and Specificity by ROC Curve Analysis among ATP7B-Genotyped Subjects
Aug 01, 2008; BACKGROUND: A serum ceruloplasmin concentration below 0.20 g/L is conventionally considered as one of the major diagnostic...