tinapitoisuudesta
Tinapitoisuus, also known as tinapitoisuuden oireyhtymä, is a rare genetic disorder characterized by the accumulation of tin in the body. It is caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase. This gene is responsible for transporting copper into the cell, and in tinapitoisuus, it is instead transporting tin, leading to its accumulation in various tissues.
The primary symptoms of tinapitoisuus include neurological issues such as seizures, developmental delays, and cognitive impairment.
There is currently no cure for tinapitoisuus, and treatment focuses on managing symptoms. This may include
The prognosis for individuals with tinapitoisuus varies depending on the severity of symptoms and the effectiveness