Succinate Dehydrogenase Deficiency
Succinate Dehydrogenase Deficiency is a rare genetic disorder that affects the body's ability to produce energy. It occurs due to mutations in genes responsible for the enzyme succinate dehydrogenase, which plays a crucial role in the Krebs cycle and electron transport chain. This deficiency can lead to a buildup of succinate and other metabolites, causing various health issues.
Symptoms of this condition can vary widely and may include developmental delays, muscle weakness, and neurological problems. Diagnosis often involves genetic testing and biochemical analysis. Treatment focuses on managing symptoms and may include supportive therapies to improve quality of life.