A 2-year-old girl presents with coarse facial features, corneal clouding, hepatosplenomegaly, and stiff joints. Her urine shows elevated heparan sulfate and dermatan sulfate. Which is the most specific investigation to confirm the diagnosis of mucopolysaccharidosis type I (Hurler syndrome)?

See the options, answer & explanation

Sign in free to reveal the answer choices, the correct answer, the detailed explanation, and AI-powered insights for this question.