What Does MSUD Stand For?

MSUD stands for Maple Syrup Urine Disease

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder characterized by the body's inability to process certain amino acids, specifically leucine, isoleucine, and valine. This condition results from a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, leading to the accumulation of toxic substances in the blood and urine. Symptoms may include a distinctive sweet-smelling urine, poor feeding, vomiting, developmental delays, and neurological issues. Early diagnosis and dietary management are crucial for preventing serious complications and ensuring optimal health outcomes for affected individuals.