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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