Inborn Errors of Metabolism Practice Questions
19 free Inborn Errors of Metabolism practice questions for the USMLE Step 1, each with the correct answer and a detailed explanation. Open any question below, or take the full set as an interactive quiz.
Questions
19 questions
All Inborn Errors of Metabolism questions
- Q1. A newborn screening picks up elevated phenylalanine levels. Which enzyme deficiency is most consistent with this finding?
- Q2. Which of the following clinical features is classically associated with untreated PKU?
- Q3. (MSUD) involves defective metabolism of which group of amino acids?
- Q4. A neonate presents with poor feeding, irritability, and a sweet odor in urine. Which inborn error of metabolism is most likely?
- Q5. Which of these is a common biochemical consequence of inborn errors of metabolism in amino-acid pathways?
- Q6. A child with episodic hypoglycemia and accumulation of fatty-acid intermediates during fasting suggests a disorder in which metabolic pathway?
- Q7. Which of the following is the most accurate general definition of an inborn error of metabolism (IEM)?
- Q8. Why are many inborn errors of metabolism (IEMs) detected via newborn screening?
- Q9. Which of the following metabolic disorders would most likely present with hyperammonemia due to impaired nitrogen disposal?
- Q10. A patient with an inborn error of metabolism affecting carbohydrate storage presents with severe fasting hypoglycemia and lactic acidosis. Which category does…
- Q11. Which of the following is true regarding inheritance and prevalence of most inborn errors of metabolism?
- Q12. Which of the following inborn errors of metabolism would classically present with a “sweaty-feet” odor of the body or urine?
- Q13. In the context of inborn errors of metabolism, what is the primary benefit of early dietary management (e.g. restricted amino acid or sugar intake)?
- Q14. A patient with episodic metabolic decompensation, vomiting, acidosis, and elevated organic acids in urine likely has which class of IEM?
- Q15. Which inborn error of metabolism would you suspect in a child with intermittent hypoketotic hypoglycemia, especially during fasting or illness?
- Q16. Why do many amino acid–metabolism IEMs result in neurologic deficits if untreated early in life?
- Q17. Which of the following best describes why IEMs may sometimes remain undiagnosed until adulthood in milder cases?
- Q18. Which of the following IEM categories involves inability to produce energy effectively from fats, especially during fasting, leading to hypoglycemia and possib…
- Q19. A newborn with elevated blood galactose after feeding develops jaundice, vomiting and liver dysfunction. This scenario best fits which IEM category?