maple syrup urine disease
Maple syrup urine disease (MSUD) is a rare genetic disorder that affects the body's ability to break down certain amino acids, specifically leucine, isoleucine, and valine. These amino acids are essential for growth and development, but in individuals with MSUD, they accumulate in the blood and can lead to serious health issues.
Symptoms of MSUD typically appear in infancy and may include poor feeding, vomiting, and a distinctive sweet-smelling urine, reminiscent of maple syrup. Early diagnosis and treatment, which often involves a special diet low in these amino acids, are crucial to prevent neurological damage and other complications.