阿摩線上測驗
8. 苯酮尿症的新生兒篩檢指標為何？
(A) 酪胺酸
(B) 苯丙胺酸
(C) 甲硫胺酸
(D) 白胺酸
答案：登入後查看
統計： A(53), B(779), C(16), D(3), E(0) #2751763
統計： A(53), B(779), C(16), D(3), E(0) #2751763
詳解 (共 3 筆)
後中123
#7214584
[苯酮尿症 (Phenylketonuria, PKU)]
30. 下列有關苯丙酮尿症(phenylketouria)的敘述，何者正確？
(A) 病人體內苯丙胺酸(phenylalanine)無法被代謝
(B) 此疾病是因尿黑酸(homogentisate)堆積所造成
(C) 病人尿液會呈現黑褐色
(D) 病人尿液會呈現楓葉糖漿之氣味
答案：A
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33. Which of the following descriptions about phenylalanine hydroxylase deficiency is not true?
(A) The ability of cells to produce tyrosine is reduced.
(B) It may result in the accumulation of pyruvate in the body.
(C) The amount of phenylpyruvate excreted in the urine is greatly increased.
(D) The resulting disease is called phenylketonuria, which often affects intellectual development in untreated patients.
(E) Such patients can be treated with a diet low in phenylalanine.
答案：B
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79. The human genetic disease phenylketonuria can result from _____.
① a defect in phenylalanine hydroxylase
② a defect in homogentisate dioxygenase
③ inability to convert phenylalanine to tyrosine
④ urine containing excessive phenylpyruvate
⑤ deficiency of phenylalanine in the diet
① a defect in phenylalanine hydroxylase
② a defect in homogentisate dioxygenase
③ inability to convert phenylalanine to tyrosine
④ urine containing excessive phenylpyruvate
⑤ deficiency of phenylalanine in the diet
(A) ①②③
(B) ①③④
(C) ①②⑤
(D) ②③④
(E) ①③⑤
答案：B
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[補充—以苯酮尿症為例的遺傳機率計算題]
考古題整理在109中國醫(18)
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[楓糖尿症 (Maple Syrup Urine Disease, MSUD)]
17. 請問下列對「楓糖尿症(maple syrup urine disease)」的描述何者錯誤？
(A) 病人體內苯丙胺酸(phenylalanine)無法被代謝
(B) 為體染色體隱性遺傳疾病
(C) 病人缺乏支鏈α-酮酸脫氫酶(branched-chain alpha-keto acid dehydrogenase)
(D) 病人尿液會呈現楓葉糖漿之氣味
答案：A
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77. A deficiency of branched chain α-keto acid dehydrogenease complex causes the defect in metabolism of amino acids. The accumulation of α-keto acid in urine leads to maple syrup urine disease. Which of the following amino acids are metabolized by α-keto acid dehydrogenease complex?
1.Methionine 2.Leucine 3.Isoleucine 4.Valine 5.Alanine
(A) 125
(B) 135
(C) 234
(D) 245
(E) 345
答案：C
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[綜合考題]
29. Which of the following pairs about the accumulated molecules and metabolic disorder is NOT correct?
(A) Homogentisate - Alkaptonuria
(B) Tyrosine - Phenylketouria
(C) Homocysteine - Homocystinuria
(D) Branched-chain α-keto acids - Maple syrup urine disease
(E) Uric acid - Gout
答案：B
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79. Phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD) are both inherited metabolic disorders affecting amino acid metabolism. Which of the following best describes between these two disorders?
(A) PKU is caused by a defect in the oxidative decarboxylation of branched-chain amino acids, whereas MSUD elevated blood levels of acetoacetate and -hydroxybutyrate.
(B) PKU affects the metabolism of branched-chain amino acids, while MSUD involves the transamination of an amino acid.
(C) PKU is due to a deficiency in phenylalanine hydroxylase, while MSUD is caused by a defect in the oxidative decarboxylation of branched-chain amino acids.
(D) Both PKU and MSUD result from impaired absorption of amino acids in the intestine.
(E) PKU and MSUD are both caused by defects in the same enzyme pathway but affect different amino acids.
答案：C
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