Deficiency of enzyme a-keto acid decarboxylase leading to a block in the metabolism of branch chain amino acids is observed in

Correct Answer: Maple syrup urine disease
Description: Maple syrup urine disease(MSUD) is due to increased activity of branched chain alpha ketoacid dehydrogenase(BCKAD) complex,a mitochondrial enzyme involved in degradation of branched chain amino acids(leucine,isoleucine, and valine).This enzyme has 4 subunits:E1alpha,E1beta,E2 and E3. Reference:Essential pediatrics-Ghai,8th edition,page no:652
Category: Pediatrics
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