A neonate presents with poor feeding, irritability, and a sweet odor in urine. Which inborn error of metabolism is most likely?
Show answer and explanation
Correct answer: Maple Syrup Urine Disease (MSUD)
The sweet (maple-syrup) odor of urine along with early neurologic symptoms is suggestive of MSUD, due to accumulation of branched-chain amino acids and their ketoacids.
Keep practicing
More Inborn Errors of Metabolism questions
- Which of these is a common biochemical consequence of inborn errors of metabolism in amino-acid pathways?
- A child with episodic hypoglycemia and accumulation of fatty-acid intermediates during fasting suggests a disorder in which metabolic pathw…
- Which of the following is the most accurate general definition of an inborn error of metabolism (IEM)?
- Why are many inborn errors of metabolism (IEMs) detected via newborn screening?
- Which of the following metabolic disorders would most likely present with hyperammonemia due to impaired nitrogen disposal?
- A patient with an inborn error of metabolism affecting carbohydrate storage presents with severe fasting hypoglycemia and lactic acidosis.…