Neonatal pyruvate dehydrogenase complex deficiency disease, also known as pyruvate dehydrogenase complex deficiency (PDCD) or congenital lactic acidosis, is a rare genetic disorder that affects the body's ability to convert food into energy. This condition specifically affects the pyruvate dehydrogenase complex, an enzyme responsible for breaking down pyruvate, a molecule produced during the breakdown of glucose.
Individuals with neonatal PDCD lack functional pyruvate dehydrogenase complex due to mutations in the genes that encode its component proteins. As a result, pyruvate cannot be efficiently processed, leading to the accumulation of pyruvate and its conversion into lactic acid. This build-up of lactic acid can cause a range of symptoms, including developmental delays, muscle weakness, seizures, poor feeding, breathing difficulties, and an enlarged heart.
Neonatal PDCD is typically diagnosed in the first few days or months of life and may be suspected based on the presence of lactic acidosis and characteristic symptoms. Genetic testing is necessary to confirm the diagnosis.
Management of neonatal PDCD primarily involves supportive care, such as providing a low-carbohydrate, high-fat diet to help the body generate energy through alternative pathways. In some cases, cofactor supplementation may be used to bypass the deficient enzyme complex. However, the prognosis for neonatal PDCD varies greatly depending on the severity of the condition and the specific genetic mutations involved. Some individuals may experience severe symptoms and have a shortened life expectancy, while others may have milder symptoms and live relatively normal lives with proper management.
