Inborn Errors of Metabolism · NEET PG Preparation Biochemistry
A 5-day-old neonate presents with poor feeding, lethargy, vomiting, and a sweet, maple syrup-like odor to the urine. Laboratory tests show severe met…
Practice question from Inborn Errors of Metabolism (NEET PG Preparation Biochemistry), with the correct answer and a step-by-step solution.
easy · MCQ · Q-2086FD
A 5-day-old neonate presents with poor feeding, lethargy, vomiting, and a sweet, maple syrup-like odor to the urine. Laboratory tests show severe metabolic acidosis with an increased anion gap and ketosis. This disorder is caused by a defect in the metabolism of which of the following groups of amino acids?
- A.Aromatic amino acids (Phenylalanine, Tyrosine)
- B.Branched-chain amino acids (Leucine, Isoleucine, Valine)Correct answer
- C.Sulfur-containing amino acids (Methionine, Cysteine)
- D.Acidic amino acids (Aspartate, Glutamate)
Solution
Maple syrup urine disease (MSUD) is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex, which impairs the breakdown of leucine, isoleucine, and valine.
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