SNP Shot: Genomic Insights

Wilson disease is a genetic condition where too much copper builds up in the body, especially in the liver, brain, and eyes. Symptoms usually start between ages 6 and 45, most commonly during the teens. This disease is characterized by a combination of liver problems and neurological or psychiatric issues.

Liver problems are often the first sign of Wilson disease in children and young adults. People diagnosed later in life may not have obvious liver symptoms, though they might have mild liver disease. Liver disease symptoms include yellowing of the skin or eyes (jaundice), tiredness, loss of appetite, and swelling in the abdomen.

Neurological or psychiatric problems are frequently the first symptoms in adults diagnosed with Wilson disease and are common in young adults. These symptoms can include clumsiness, tremors, difficulty walking, speech difficulties, impaired thinking, depression, anxiety, and mood changes.

Many people with Wilson disease develop Kayser-Fleischer rings, which are greenish-brown rings caused by copper deposits in the cornea (the front surface of the eye). These rings surround the colored part of the eye. Eye movement abnormalities, like difficulty looking upwards, can also occur.

Inheritance:

Wilson disease is an autosomal recessive disorder. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The parents of someone with Wilson disease each carry one copy of the mutated gene but usually don't show any symptoms themselves.