A 3-month-old infant presents with progressive developmental delay, seizures, and a distinctive mousy odour to the urine. Newborn screening was not performed. The inheritance pattern shown in the pedigree is marked as **A** (autosomal recessive, both parents carriers). Which of the following best explains the biochemical defect underlying this clinical presentation?
Ready to test yourself?
Test your Pediatrics knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Phenylketonuria MCQs with AI-powered explanations tailored to your performance.
Create Free Account