試題詳解

75. A newborn is diagnosed to have severe metabolic acidosis, ketosis, and hyperammonemia. Plasma amino acid analysis shows markedly elevated branched-chain amino acids. Which of the following statements is correct?

I. The primary defect is in the degradation of leucine, isoleucine, and valine. 

II. The enzyme deficiency affects a complex that requires biotin as a cofactor.

III. Restriction of aromatic amino acids in the diet is the key step of treatment.
(A) I and II
(B) II and III
(C) I and III
(D) I only
(E) All of them are correct.