EBCOG – PART 1 – BIOCHEMISTRY

1. Which condition is caused by the failure to mineralise newly formed osteoid?

2. A 50-year-old woman presents to her general practitioner complaining of fatigue and upper abdominal pain, 6 weeks after sustaining a distal radial fracture. Her blood tests indicate hypercalcaemia and hypophosphataemia. What is the most likely diagnosis?

3. Which enzyme is involved in the rate-limiting step of the glycolysis pathway?

4. What is the overall product of the glycolysis pathway?

5. A 28-year-old primiparous woman attends her booking appointment at 10 weeks’ gestation. She is keen to maintain a healthy diet during her pregnancy and asks her midwife to explain the difference between essential and non-essential amino acids. Which of the following is a non-essential amino acid?

6. A 24-year-old woman is admitted via the emergency department with persistent hyperemesis of pregnancy. She is now feeling very unwell and appears dehydrated. Her blood pressure is 110/60 mmHg, heart rate 100 beats per minute, SpO2 98% on room air and a respiratory rate of 20 breaths per minute. Which is the most likely acid-base disorder in this patient?

7. Following the birth of their second child with severe developmental delay, a couple is seen by a clinical geneticist. Genotyping suggests a rare autosomal recessive condition caused by a defect in the normal functioning of the citric acid cycle. Which of the following is not an intermediate of the citric acid cycle?

8. Which of the following describes the appearance of sister chromatids during the anaphase of mitosis?

9. A 12-year-old boy has gross developmental delay of unknown cause. On physical examination, he is noted to have macro-orchidism, prominent ears and a large forehead. He is seen by a clinical geneticist who suspects Fragile X syndrome and wishes to perform genotyping. Which of the following laboratory techniques is used to detect DNA sequences?

10. A 58-year-old woman has recently been diagnosed with type 2 diabetes mellitus. As part of her routine care, her general practitioner checks and her fasting cholesterol levels. She is found to have a mildly raised total cholesterol level with a raised serum low-density lipoprotein level. Which of the following describes the function of low-density lipoproteins?

11. An infant is born at term by normal vaginal delivery. When the baby is 18 days old, he is brought to the emergency department by his parents. He is vomiting, severely dehydrated and appears to be underweight. The paediatricians diagnose a salt-wasting crisis and are concerned that he has a form of congenital adrenal hyperplasia. What hormone deficiency is characteristic of this disorder?