Which of the following clinical features is classically associated with untreated PKU?
Show answer and explanation
Correct answer: Musty or mousy odor of urine or skin
Untreated PKU often results in a characteristic “musty” (or “mousy”) odor of the skin, urine or breath due to elevated phenylalanine and its metabolites.
Keep practicing
More Inborn Errors of Metabolism questions
- (MSUD) involves defective metabolism of which group of amino acids?
- 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?