Wilson’s Disease

An uncommon autosomal recessive ailment called Wilson disease (hepatolenticular degeneration) is brought on by aberrant copper accumulation in the body, especially in the brain, cornea, and liver. One in 30,000 people can develop it, and symptoms can include weakness, abdominal pain, jaundice, personality changes, seizures, etc. Symptoms typically manifest in the brain and liver. Nausea, weakness, fluid accumulation in the abdomen (ascites), edema in the legs, jaundiced skin, and itching are among the liver-related symptoms. Tremors, muscle rigidity, speech difficulties, alterations in personality, anxiety, and auditory or visual hallucinations are indicative of neurological or cerebral involvement. Wilson’s disease arises from mutations in the ATP7B gene, situated on chromosome 13, which governs a protein transporter responsible for eliminating excess copper through bile. This transporter is predominantly found in the trans-Golgi networks of the liver and brain. The liver primarily...