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 IN PERSONS WITH THIS CONDITION CAN SMELL LIKE MAPLE SYRUP. Maple syrup urine disease Amnah Mahroo

Maple syrup urine disease (MSUD) a metabolic disorder of branched chain amino acids caused by a deficiency of the branched-chain alpha- keto acid dehydrogenase complex (BCKDC) Accumulation of  leucine  Isoleucine and  valine in the blood and urine

Genetic prevalence Maple syrup urine disease affects approximately 1 out of 180,000 infants autosomal recessive disorder four genes produce proteins that work together as the (BCKDC) complex BCKDHA BCKDHB DBT DLD

Diagnosis and Symptoms presence of sweet-smelling urine and earwax poor appetite weak suck weight loss high pitched cry Vomiting If not treated, other symptoms can follow: swelling of the brain seizures metabolic acidosis mental retardation or spasticity coma, sometimes leading to death

Signs and tests Plasma amino acid test Urine amino acid test  Newborn screening tests Newborn screening tests  Inborn errors of metabolism Inborn errors of metabolism Isoleucine Children: 37 to 140 Adults: 42 to 100 Leucine Children: 70 to 170 Adults: 66 to 170 Valine Children: 160 to 350 Adults: 150 to 310 PLASMA AMINO ACID CONCENTRATIONS

TREATMENT FOR MSUD A protein-free diet A special medical formula as a substitute for milk Fluids, sugars and fats are given through a vein (IV) Diet low in branched-chain amino acids Thiamine Supplements Tracking BCAA levels Dialysis Liver transplantation ciddisorders/MSUD.html ciddisorders/MSUD.html

Prevention Genetic counseling Genetic testing (DNA testing) Carrier testing

References The MSUD Family Support Group CLIMB (Children Living with Inherited Metabolic Disorders) Genetic Alliance MSUD.html MSUD.html