Maple syrup urine disease

Maple syrup urine disease (MSUD) causes certain amino acids to accumulate in the blood. The disease name refers to the characteristic smell of the urine. Without early diagnosis and treatment, classic MSUD leads to intellectual and developmental disabilities, physical disabilities, seizures and death. Treatment, which consists of a strict, lifelong special diet, may help to control the accumulation of amino acids in the blood and may improve the symptoms. View testing options