A 7 day old infant presented with lethargy, decreased feeding, emesis, poor weight gain,hypotonia, a high-pitched cry, seizures, and the characteristic maple syrup smell of the urine.The following features are due to defect in
Maple syrup urine disease (MSUD)-1 is due to impaired Alpha-Ketoacid decarboxylase component of BCKAD (branched chain alpha keto acid dehydrogenase) complex,leading to defective decarboxylation reaction and the formation of branched-chain amino acids (leucine, isoleucine, and valine) and their toxic byproducts (keto-acids) in blood and urine. A peculiar odor (burnt sugar) is found in urine, sweat, and cerumen. Treatmet:Diet lacking in branched chain amino acids Reference: Harpers illustrated biochemistry 30th edition
Oxidaton
Deamination
Carboxylation
Decarboxylation
Metabolism of protein and amino acid