Wilson's disease liver. It is due to mutations in the "COMMD1" (or "MURR1") gene. Despite this findings, "COMMD1" mutations could not be detected in humans with non-Wilsonian copper accumulation states (such as Indian childhood cirrhosis) to explain their genetic origin. Wilson's disease Wilson's disease is a genetic disorder in which copper builds up in the body. Symptoms are typically related to the brain and liver. Liver related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain related symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and seeing or hearing things
Adult polyglucosan body disease same mutations is called glycogen storage disease type IV. Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. About half of people with adult polyglucosan body disease experience a decline in intellectual function (dementia). Most people with the condition first go to the doctor due to the bladder issues.