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Biochemistry Quiz | Biochemistry Short Questions and Answers

41 Which of the following has a known association with phenylketonuria?
[A] Presentation in the second year of life with absence seizures.
[B] The association of red hair and brown eyes.
[C] Normal development.
[D] Musty odour.
Answer: Musty odour.
42 Which of the following is a characteristic feature of familial hypercholesterolaemia?
[A] Autosomal dominant inheritance
[B] elevated chylomicrons
[C] hypertriglyceridaemia
[D] increased expression of LDL receptors
Answer: Autosomal dominant inheritance

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43 An 16-year-old man presents with polyuria and polydipsia. Which of the following may confirm the diagnosis of diabetes mellitus?
[A] A random plasma glucose of >7.5 mmol/L
[B] A finding of 3+ ketonuria
[C] An HbA1c of 7.0%
[D] A fasting plasma glucose of 7.5 mmol/L
Answer: A fasting plasma glucose of 7.5 mmol/L
44 Which of the following enzyme defects is associated with a characteristic body odour?
[A] Phenylalanine aminotransferase
[B] Galactose0-phosphate-uridyltransferase
[C] Ornithine transcarbamylase deficiency
[D] Branched chain ketoacid decarboxylase
Answer: Branched chain ketoacid decarboxylase
45 Which of the following conditions may be detectable by growth monitoring?
[A] Hyperthyroidism
[B] Hypothyroidism
[C] Pseudohypoparathyroidism
[D] XYY Syndrome
Answer: Hypothyroidism
46 With respect to lipoprotein transport and metabolism in the body, the following statements are correct EXCEPT:
[A] Arterial walls contain cells with LDL receptors.
[B] Cholesterol is required for the formation of red blood cell membranes.
[C] Chylomicrons are synthesized in the liver.
[D] HDL is assembled in the extracellular space.
Answer: Chylomicrons are synthesized in the liver.

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