A 14-month-old boy presents with progressive developmental delay, coarse facial features, hepatosplenomegaly, and a thoracolumbar gibbus deformity. Audiometry reveals the pattern marked **B** in the diagram. Which of the following biochemical defects best explains both the hearing loss pattern and the systemic manifestations in this child?
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 Hurler Syndrome (MPS I) MCQs with AI-powered explanations tailored to your performance.
Create Free Account