36-maple syrup urine disease-fmge march 2012

36- Which disease would occur if there was a deficiency in the enzyme branched-chain alpha-keto acid dehydrogenase?fmge march 2012


A. maple syrup urine disease

B. phenylketonuria

C. tyrosemia

D. galactosemia


answer : a

Maple syrup urine disease (MSUD) results from a deficient enzyme (branched-chain alpha-keto acid dehydrogenase, BCKD) necessary for the breakdown of the amino acids leucine, isoleucine, and valine. Without the BCKD enzyme, these amino acids build up to toxic levels in the body. If left untreated, this leads to brain damage and progressive nervous system degeneration.