Disease, maple syrup urine: Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. The three branched-chain amino acids: (leucine, isoleucine, and valine) cannot be metabolized (processed) and build up in the blood to the detriment of brain function. Untreated maple syrup urine disease (MSUD) causes mental retardation, physical disability and death.
MSUD is a component of many newborn screening programs. Treatment involves a special diet and monitoring of protein intake. The special diet lacks the three branched-chain amino acids: which are then added back to provide the protein needed for normal growth and development. Close medical care is critical because even mild illnesses can become life-threatening and require hospitalization.
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins.
Article describes maple syrup urine disease, its symptoms, diagnosis, and treatment.
Disease characteristics. Maple syrup urine disease (MSUD) in untreated neonates is characterized by maple syrup odor in cerumen at 12-24 hours after birth; elevated plasma ...
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine ...