Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.Click to see full answer. Regarding this, is maple syrup urine disease recessive or dominant?Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.Beside above, is maple syrup urine disease rare? Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder. The disease prevents your body from breaking down certain amino acids. Also to know is, what chromosome is maple syrup urine disease on? A number sign (#) is used with this entry because maple syrup urine disease (MSUD) can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA (608348) on chromosome 19q13, BCKDHB (248611) on chromosome 6q14, and DBT (248610) on chromosome 1p21.Where is maple syrup urine disease most common?Worldwide, MSUD type 1B is estimated to affect 1 in 185,000 infants. It is most common among the Old Order Mennonite population, where about 1 in 385 infants is affected by the disease. Among Mennonites of eastern Pennsylvania, the frequency has been reported as high as 1 in 176 infants.