Making a Diagnosis

Although clinical signs and symptoms alone are not enough to make a diagnosis, they warrant more definitive testing. For example, MPS I should be suspected in individuals with coarse facial features, hepatosplenomegaly, and characteristic skeletal, joint, or ocular findings. Because MPS I generally affects many organ systems and can present in a variety of ways, diagnosis may require collaboration and communication among geneticists, neurologists, pediatricians, developmental specialists, surgeons, cardiologists, gastroenterologists, physiotherapists, rheumatologists, ophthalmologists, otolaryngologists, and primary care providers.

A definitive diagnosis of MPS I relies on the demonstration of deficiency of the lysosomal enzyme α-L-iduronidase. This enzyme activity can be measured in most tissues; however, diagnosis is usually made with the use of peripheral blood leukocytes, plasma or cultured fibroblasts.

More information by specialty:

General & Pediatric Surgeons
Geneticists & Genetic Counselors
Orthopedic Surgeons
Primary Care Physicians