Published on Mar 3, 2021
Biochemistry
60. Maple Syrup Urine Disease
- Deficiency of branched chain alpha-keto acid dehydrogenase (BCKAD) results in defective oxidative decarboxylation of branched chain amino acids - Leu, Ile and Val and their levels are increased in plasma and urine - Branched chain ketonuria.
- Causes severe CNS defects, mental retardation and death.
- Burnt sugar odor of urine – urine smells like maple syrup.
- Treatment: Restrict branched chain Aa’s and give high doses of thiamine.