What is the lack of pyruvate dehydrogenase?
The lack of pyruvat dehydrogenase is a genetic disorder of human metabolism, where the process of generating energy in cells does not work properly, leading to a number of physical and cognitive problems. This condition is not curable, but treatment can handle symptoms and help reduce the severity in the patient. Each case requires individual processing, as the deficiency may be relatively diverse and may vary in severity and precise presentation. The patient may need the therapeutic team of people to solve various problems associated with the lack of pyruvat dehydrogenases. Men and women may have it, and symptoms usually start in childhood, although they can later. Some people have physical anomalies, such as the abnormal structure of the face, and as they evolve, they experience neurological deficits such as fatigue, tremor and problems with fine motor tasks. A doctor may recommend testing to learn more abstains what is happening and documented medical history of pyruvat dehydrogenase in one or both parents is also a clear diagnosisby a ican indicator. One option is to adapt and supplement the diet to make more energy available. This can be useful in some patients. Other patients can benefit from physical therapy, drugs to treat symptoms and other treatment options depending on the form of the disease they have.
People with a lack of pyruvat dehydrogenases who fear them pass them on to their children can meet a genetic advisor to discuss their possibilities. A thorough processing to learn more about the specifics of a shortage in a given patient is usually the starting point in order to see how serious the ENT pati can be seen and what can be done for efficiently and properly managed. Some options for parents who want to avoid handling, may include the use of donor eggs or sperm, or use in vitro fertilization and a selection of embryo with healthy genes for implantation.
nedosPyruvát dehydrogenase is a good candidate for gene therapy, which is an approach to treatment, where doctors turn off harmful genes to allow recessive good genes to express. Since 2011, gene therapy has been primarily a hypothetical treatment, although many scientists have sought to develop it. Research includes learning more about participating genes and how to target them effectively.