You are examining a 2-year-old child presenting with disproportionate short-trunk dwarfism. Additional physical signs are coarse facial features, corneal clouding, and hepatosplenomegaly. You suspect the child is suffering from a lysosomal storage disease and order a test for a-iduronidase activity and find that it is severely impaired. Which of the following would you expect to find at elevated levels in fibroblasts from a skin biopsy from this patient?

Question

Quizplus · Accepted Answer

The symptoms and impaired a-iduronidase activity suggest Hurler syndrome, a type of mucopolysaccharidosis. In this condition, heparan sulfate and dermatan sulfate accumulate due to the enzyme deficiency.  The child is most likely suffering from Hurler syndrome. This disorder is characterized by the lysosomal accumulation of dermatan and heparan sulfates as a consequence of defects in the lysosomal hydrolase a-l-iduronidase.

You Are Examining a 2-Year-Old Child Presenting with Disproportionate Short-Trunk