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    SubjectsBiochemistryAmino Acidurias — PKU, Alkaptonuria, Maple Syrup
    Pre-clinicalBiochemistry

    Amino Acidurias — PKU, Alkaptonuria, Maple Syrup

    35 MCQs in Biochemistry for NEET PG

    5 Easy28 Medium2 Hard
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    Sample Questions

    easy

    Which of the following is the most common amino aciduria in the Indian population?

    medium

    A 6-month-old infant from rural Maharashtra is brought to the pediatric clinic with developmental delay and a musty odor on the skin. Newborn screening was not performed. Serum phenylalanine is 1200 μmol/L (normal <120 μmol/L). The parents are consanguineous. Which of the following statements about phenylketonuria (PKU) is NOT true?

    medium

    A 3-day-old neonate from Delhi presents with poor feeding, lethargy, and a sweet, maple syrup-like odor in urine. Plasma amino acid analysis shows markedly elevated branched-chain amino acids (leucine, isoleucine, valine) and their corresponding α-ketoacids. Which of the following statements regarding maple syrup urine disease (MSUD) is NOT true?

    easy

    Which enzyme is deficient in phenylketonuria (PKU), and what is the primary metabolic consequence?

    medium

    Which of the following amino acidurias is characterized by accumulation of branched-chain amino acids and their ketoacid metabolites, with a distinctive sweet-smelling urine?

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