Maple Syrup Urine Disease

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder where the body cannot break down certain amino acids, specifically leucine, isoleucine, and valine. This leads to a buildup of these substances in the blood and urine, giving the urine a sweet smell reminiscent of maple syrup. Symptoms can include poor feeding, vomiting, and neurological issues. If untreated, MSUD can result in severe health problems or even death. Early diagnosis through newborn screening and a special diet can help manage the condition and prevent complications.