What is Pyruvate Dehydrogenase Deficiency?

Pyruvate dehydrogenase deficiency is a genetic disorder of the human metabolism where the process for generating energy in cells does not work properly, leading to a variety of physical and cognitive problems. This condition is not curable, but treatments can manage the symptoms and help reduce the severity in the patient. Each case requires individual handling, as the deficiency can be quite diverse and may vary in severity and precise presentation. The patient may need a treatment team of people to handle various issues associated with pyruvate dehydrogenase deficiency.

This condition is an x-linked dominant trait, passed on the x-chromosome. Both men and women can have it and symptoms usually start in childhood, although they may onset later. Some people have physical anomalies like abnormal facial structure, and as they develop, they experience neurological deficits like fatigue, tremors, and difficulty with fine motor tasks. A doctor can recommend testing to learn more about what is happening, and a documented history of pyruvate dehydrogenase deficiency in one or both parents is also a clear diagnostic indicator.

In patients with this condition, a key enzyme necessary for making energy available to mitochondria in the cells does not work properly. One option for treatment is dietary adjustment and supplementation with the goal of making more energy available. This can be helpful in some patients. Other patients may benefit from physical therapy, medications to treat symptoms, and other treatment options, depending on the form of the disease they have.

People with pyruvate dehydrogenase deficiency who are concerned about passing it on to their children can meet with a genetic counselor to discuss their options. A thorough workup to learn more about the specifics of the deficiency in a given patient is usually a starting point, to see how severe the patient's case, and what can be done to manage it effectively and appropriately. Some options for parents who want to avoid passing the condition on can include using donor eggs or sperm, or using in vitro fertilization and selecting an embryo with healthy genes for implantation.

Pyruvate dehydrogenase deficiency is a good candidate for gene therapy, an approach to treatment where doctors turn off deleterious genes to allow recessive good genes to express themselves. As of 2011, gene therapy was primarily a hypothetical treatment option, although a number of researchers were pursuing options for developing it. Research includes learning more about the genes involved and how to effectively target them.