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 Adult polyglucosan body disease Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism. Symptoms can emerge any time after the age of 30; early symptoms include trouble controlling urination, trouble walking, and lack of sensation in the legs. People eventually develop dementia. A person inherits loss-of-function mutations in the "GBE1" gene from each parent, and the lack of glycogen branching enzyme (the protein encoded by "GNE1") leads to buildup of unbranched glycogen in cells, which harms neurons more than other kinds of cells. Most people first