Testing and Diagnosis

Diagnosis with MPS I/MPS II is usually prompt in individuals with severe phenotypes as they develop obvious and rapidly progressing signs and symptoms.

However, individuals with attenuated forms of MPS I/MPS II may experience significant diagnostic delays.1,2 Analyses of data from the global MPS I registry have shown a median diagnostic delay of 4 years in patients with the most attenuated forms of MPS I, compared with a median delay of 6 months in patients with severe MPS I.1

Diagnostic delay in MPS I

Median age of onset of symptoms, diagnosis, and treatment in severe and attenuated forms of MPS I. The median age in years is noted above each column. The number of patients, n, is noted below each column.

Adapted from Beck, M. et al. (2014) Genet Med 16(10): 759-765.

Accurate and timely diagnosis of MPS I/MPS II is important as treatments are available. As diagnosis requires biochemical testing, it is essential that physicians are familiar with the appropriate diagnostic pathways and tests. In this section, learn about how a diagnosis is made when MPS I or MPS II is suspected.

Clinical Presentation (Videos)

Clinical Presentation (Videos)

Here are video examples of MPS I patients slowly progressing to serve.  

Development Delay

Development Delay

Assessment of neurodevelopment and cognitive ability is essential in MPS I/MPS II. The primary purpose of neurodevelopmental testing is to determine the cognitive and educational abilities of an affected child.

Testing

Testing

Learn about the tests used to diagnose MPS I and MPS II.

References

  1. 1.Beck M, Arn P, Giugliani R, et al. (2014) The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med 16(10): 759-765.
  1. 2.Martin R, Beck M, Eng C, et al. (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121(2): e377-386.