Dictionary of Human Evolution and Biology

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Wilson Disease

Inherited autosomal recessive condition that manifests by the second decade of life, characterized by liver disease in children and by neurological difficulties in young adults. Other symptoms include headache and stomach ache, los of balance, gravelly voice, handwriting abnormalities, drooling, and uncontrolled facial expression. Defects in copper metabolism cause damage to the liver and CNS, a diagnostic ring around iris, tremors, and emotional changes. The defective gene is ATP7B. Rare.

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