Maple syrup urine disease definition
Maple syrup urine disease means a congenital disorder of branched chain amino acid metabolism due to defective branched chain-keto acid dehydrogenase activity.
Maple syrup urine disease means an inherited error in the metabolism of leucine, isoleucine, and valine.
Maple syrup urine disease. (MSUD) means deficiency of enzymes necessary to breakdown the branch chained amino acids leucine, isoleucine, and valine resulting in a buildup of these and metabolic intermediates in the blood. If undetected and untreated may result in mental and physical retardation or death.
More Definitions of Maple syrup urine disease
Maple syrup urine disease or “M.S.U.D.” means a congenital metabolic disorder of branch branched chain amino acid metabolism due to defective branched chain α-keto acid dehydrogenase activity which causes mental retardation or death if not treated early in life.
Maple syrup urine disease or "M.S.U.D." means a congenital metabolic disorder of branch chain amino acid metabolism which causes mental retardation or death if not treated early in life.
Maple syrup urine disease means an inherited error in the metabolism of leucine, isoleucine, and valine. "MCH" (17) "MCH/CSHCS clinics" means clinics affiliated with the children's special health care services program of the division of maternal and child health of the department that provide services to women, children, and children with special health care needs.