Biochemistry Short Questions and Answers

Questions

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.

View Answer

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

View Answer

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

View Answer

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

View Answer

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

View Answer

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.

View Answer

Answer: Chylomicrons are synthesized in the liver.

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