Pyruvate Dehydrogenase Complex Deficiency Disease is a genetic disorder that affects the function of the pyruvate dehydrogenase complex (PDC), an enzyme responsible for converting pyruvate, a product of glucose metabolism, into acetyl-CoA, which is an essential molecule in the citric acid cycle. This complex deficiency disease is characterized by a lack or malfunction of one or more of the enzymes in the pyruvate dehydrogenase complex, resulting in an impaired ability to convert pyruvate into acetyl-CoA.
The symptoms of Pyruvate Dehydrogenase Complex Deficiency Disease can range from mild to severe and can manifest in infancy or early childhood. Common symptoms include developmental delay, neurological abnormalities, muscle weakness, poor muscle tone, poor feeding, and lactic acidosis, which occurs due to the buildup of lactic acid in the body. Other symptoms may include seizures, intellectual disability, and episodes of coma.
This disease is considered a mitochondrial disorder, as the pyruvate dehydrogenase complex is located in the mitochondria, which are responsible for generating energy in cells. Pyruvate Dehydrogenase Complex Deficiency Disease is usually inherited in an X-linked manner, meaning that males are more severely affected than females. However, there are also cases of autosomal recessive or autosomal dominant inheritance patterns.
Currently, there is no cure for this disease, and treatment typically focuses on managing symptoms and preventing complications. This may include dietary interventions, such as a low-carbohydrate, high-fat diet, and the administration of supplements like thiamine. In some cases, additional supportive therapies, such as physical and occupational therapy, may be beneficial to improve muscle function and mobility.
