DIAGNOSIS AND TESTING
How is MPS I diagnosed?
A healthcare provider (HCP) can confirm an MPS I diagnosis by testing enzyme activity levels in the blood or skin cells. In individuals without MPS I, the tests show normal lysosomal α-L-iduronidase (IDUA) enzyme activity. In individuals with MPS I, the lysosomal IDUA enzyme activity is much lower.
Who should be tested?
The sooner someone with MPS I is diagnosed, the earlier it can be managed. When signs and symptoms are present, HCPs may consider testing for MPS I. Testing should also be considered for family members of individuals with MPS I.
IDUA = alpha-L-iduronidase;
MPS I = mucopolysaccharidosis type I.
MPS I = mucopolysaccharidosis type I.