Maple Syrup Urine Disease
Maple Syrup Urine Disease (MSUD) affects the body's ability to process dietary protein. The disease appears soon after birth and is characterized by sweet-smelling urine. Symptoms include poor feeding, lethargy, irritability, and vomiting. If left untreated, MSUD results in severe brain damage, coma, and death in infancy.
MSUD can be effectively managed with dietary restriction of proteins.
Approximately 1 in 125 Ashkenazi Jews is a carrier of Maple syrup urine disease. Screening for three gene mutations will detect more than 95% of carriers.