kohdesyke
Kohdesyke is a rare genetic disorder that affects the body's ability to produce a protein called phosphoribulokinase, which is essential for the production of energy in cells. It is caused by mutations in the RPL35A gene, which provides instructions for making a component of the ribosome, a molecule that plays a critical role in protein synthesis.
Symptoms of kohdesyke typically begin in infancy and may include muscle weakness, fatigue, seizures, and anemia.
There is no cure for kohdesyke, but treatment typically focuses on managing symptoms and preventing complications.
Kohdesyke is a rare disorder, and estimates suggest that fewer than 20 cases have been reported worldwide.