Wilson disease (WD) is an autosomal recessive disorder, characterized by systemic copper overload, resulting in accumulation of copper in body tissues, especially in the liver and brain. The disease is a manifestation of an excessive absorption of copper from the small intestine and decreased excretion of copper by the liver.
The ATBP7 gene, located on chromosome 13, codes for a P-type ATPase (ATPase, Cu(2+)-Transporting, Beta Polypeptide), which functions in the export of copper out of the cells, such as in the efflux of hepatic copper into the bile, and its incorporation into ceruloplasmin. Mutated copies of the ATPB7 gene result in the production of defective transport protein, which is unable to properly transport copper into the bile. Copper, therefore, builds up in the body tissues causing the toxicity noticed in WD.
Fido and Mughaiseeb (1994) described a 14-year old girl with Wilson's disease who was erroneously diagnosed with catatonic schizophrenia. They recommended that psychiatric patients under the age of 40 presenting with neurological symptoms should be screened for Wilson's disease
Mirza et al. (1994) were the first to report Wilson's disease in Oman in an 18-year old Omani female. (Mirza. Wilson's disease in Oman, report of an Omani family. Oman Med J. 1994; 11(2):32-4.)
Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among the 82 patients, two children were diagnosed with Wilson's disease [CTGA Database Editor's note: Computed annual incidence rate is 1.6/100,000].
Passwell et al. (1977) observed that Arab patients with Wilson Disease show an earlier age of onset and more severe course than Jewish patients. The overall sex ratio of patients was nearly 1:1, and genetic analysis of 20 families confirmed an autosomal recessive mode of inheritance.
Al Jumah et al. (2004) screened 56 Saudi Arabian Wilson Disease patients (39 symptomatic and 17 pre-symptomatic siblings) for mutations in the ATP7B gene. disease-causing mutations in three exons (exons 8, 19 and 21) were detected in 28 patients (50%).