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. As the disorder progresses, individuals may experience a range of complications, including developmental delays, intellectual disability, and failure to thrive. In some cases, kohdesyke can lead to life-threatening complications, such as respiratory failure and cardiac arrest.

There is no cure for kohdesyke, but treatment typically focuses on managing symptoms and preventing complications. This may involve a multidisciplinary approach, including medications to treat seizures and anemia, as well as physical and occupational therapy to promote mobility and independence. In some cases, individuals with kohdesyke may require a wheelchair or other mobility device due to muscle weakness.

Kohdesyke is a rare disorder, and estimates suggest that fewer than 20 cases have been reported worldwide. The disorder was first identified in the 1990s, and since then, researchers have made progress in understanding the genetic and molecular basis of the condition. However, much work remains to be done to develop effective treatments and improve the quality of life for individuals affected by kohdesyke.