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Pediatrics Metabolic disorders 2c88df94

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

A
Maple syrup urine disease
B
Hanup's disease
C
Alkaptonuria
D
Phenylketonuria
High-Yield Explanation
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

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