Mucopolysaccharidoses

Question 1

Hurler syndrome

Answer 1

• alpha-L-iduronidase — increased Heparan sulphate, dermatan sulfate
• Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Question 2

Hunter syndrome (XR)

Answer 2

• Iduronate sulfatase —- Heparan sulfate, dermatan sulfate

- Mild-hurler + aggressive behaviour, no corneal clouding