pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency is a rare neurometabolic disorder that affects the body’s ability to generate energy properly. This condition results in a range of symptoms that involve both metabolism and the nervous system. Some people with the condition experience severe metabolic issues such as lactic acidosis in the newborn period, while others may have neurological symptoms that appear later in life. There are six recognized subtypes of this condition. These subtypes are linked to different parts of the enzyme complex, including deficiencies in E1-alpha, E1-beta, E2, E3, E3-binding protein, and pyruvate dehydrogenase phosphatase. Although there is significant clinical overlap among the subtypes, the severity and specific features can vary widely among people with this condition.

People with pyruvate dehydrogenase deficiency can show signs of both metabolic imbalance and neurological issues. For instance, some newborns may develop severe lactic acidosis, which is an overload of lactic acid in the body. Others might develop neurological signs later in life. Information about the full range of symptoms is currently limited for this condition.

The condition is caused by problems with the pyruvate dehydrogenase complex, a critical enzyme system needed for energy production. Six subtypes have been identified, each associated with a deficiency in a specific component of the enzyme complex such as E1-alpha, E1-beta, E2, E3, or the E3-binding protein, as well as an issue with pyruvate dehydrogenase phosphatase. These enzyme deficiencies interfere with normal energy production, leading to the clinical features seen in people with this condition.

Information about treatment is currently limited for this condition.

The outlook for people with pyruvate dehydrogenase deficiency varies. In severe cases, particularly when symptoms appear in the neonatal period, the condition can be life-threatening. In other cases, later-onset neurological symptoms may lead to chronic challenges. Overall, the quality of life and long-term outcomes can vary significantly, and more detailed information is needed.

Information about ongoing research into pyruvate dehydrogenase deficiency is currently limited for this condition.