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 cases had been reported in the medical literature as of 2016. As of 2016 the largest set of case studies included 50 people; about 70% of them were of Ashkenazic Jewish descent. A person with APBD named Gregory Weiss created a foundation, the Adult Polyglucosan Body Disease Research Foundation, to fund research into the disease and its management. In 2015 the first transgenic mouse that appeared to be a useful model organism for studying APBD was published. Adult polyglucosan body disease Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is caused by an