Wilson Disease | Open Access Journals

Journal of Genetics and Genomes

ISSN: 2684-4567

Open Access

Wilson Disease

The Wilson disease is a genetic disorder that builds up excess copper in the body. Symptoms are typically brain and liver related. Symptoms associated with the liver include diarrhea, fatigue, fluid build up in the abdomen, leg swelling, yellowish skin and itchiness. Brain-related signs include tremors, weakness in the body, difficulty breathing, changes in personality, anxiety, and seeing or experiencing something most people do not. Wilson 's disease is due to a mutation in the protein of the Wilson disease (ATP7B) gene. This protein takes excess copper into bile, where it is excreted in waste. The disorder is autosomal recessive; they must inherit a mutated copy of the gene from both parents for a person to be affected. Diagnosis can be complicated and sometimes requires a mixture of blood tests, urine tests and a hepatic biopsy. Genetic tests may be used to screen affected family members.

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