(MSUD) involves defective metabolism of which group of amino acids?
Show answer and explanation
Correct answer: Branched-chain amino acids (leucine, isoleucine, valine)
MSUD results from defective activity of the branched-chain α-ketoacid dehydrogenase complex, impairing breakdown of the branched-chain amino acids leucine, isoleucine and valine.
Keep practicing
More Inborn Errors of Metabolism questions
- A neonate presents with poor feeding, irritability, and a sweet odor in urine. Which inborn error of metabolism is most likely?
- 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?