Wilson disease is a genetic copper toxicosis due to hepatic copper transporter ATP7B deficiency. The primary lesion is copper-induced liver damage that progresses to cirrhosis, and may be complicated by extrahepatic lesions. Compound heterozygous mutations were identified in the ATP7B of a 16-year-old male patient with neurological Wilson disease. A family study disclosed different mutations in the parents, compound heterozygous mutations from the parents in the 12-year-old sister, and a maternal mutation in the 14-year-old sister. According to the autosomal recessive inheritance of this disease, the family members with compound heterozygous mutations are affected, but those with a heterozygous mutation are not affected by copper toxicosis. Both the proband and an asymptomatic sister with the disease trait were effectively treated with penicillamine and vitamin B6. ATP7B analysis, recently authorized in Japan, provides a noninvasive, definitive diagnosis of Wilson disease.
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